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37569667,37234811,36842471,36627765,35769963,35422036,35298084,34978779,34963845,34923567,34595172,34470639,34331829,34137366,34016138,33957552,33933270,33770382,33460028,33060134,33059947,33042696,32936763,32744776,32671003,32656695,32524007,32522788,32267100,31606423,31510961,31045292,30927481,30905105,30860584,30531648,28955524,28409412,27611897,27591150,27582869,27312855,27232581,27169690,26797872,26637980,26608784,26595769,26429597,26416026,26374189,26323792,26231886,26162852,26077773,25728776,25490023,25320347,25105364,24973050,24928221,24803154,24790877,24768001,24748105,24741545,24705347,24551984,24548577,24389050,24280736,24106199,24027040,23795286,23794361,23612698,23498563,23337351,23023959,22948629,22933543,22865833,22840364,22821869,22786707,22581640,22527565,22416078,22139958,21990275,21979914,21815888,21422802,21358633,20857301,20358609,19877776,19839044,19643772,19567534,19470799,19277063,18984961,18577061,18486828,18174396,17178704,16278902,15372530,15368497,12571786,12400072,12100075,11009306,10951479,10868200,9800908,9800907,9800906,9578959,9475098,8985484,8887154,8874115,8862620,8533804,8358044,8323498,7877887,7783178,7735506,7551160,7509217,7201238,6539375,4025388,3799711,3591824,2764032,2588933,1897566,1815189,1770539,1686134,1296517,934161,37758168,37604812,37590370,37175782,37094075,36802443,36681682,36630262,36622817,35000298,34549701,34405953,34217350,34136918,34118183,34068194,33654309,33590678,33444820,33338304,33317933,33037049,33016782,32909097,32665241,32652690,32557621,32534991,32475352,31470809,31407851,31343991,31311520,31151966,31074943,30922925,30804344,30569574,30413633,30368667,30290151,30281379,30214071,30121372,30093551,30006060,29983320,29967526,29760432,29597095,29571594,29537382,29370840,29356416,29265708,28832566,28508613,28198391,27717373,27552668,27405720,27250922,27053665,26987684,26940245,26850509,26791357,26702851,26640080,26607181,26522830,26381604,26374271,26336158,26050940,25893882,25872942,25485589,25344692,25291638,24516132,24123394,24057284,23665482,23583796,23516378,23397510,23324397,23166506,23144622,22819011,21633703,21548129,21488932,21474761,21474760,21396579,21358632,21292919,21270239,20676397,20522431,20471352,20096683,19546241,19473885,18034778,17551470,17073157,14594175,12376940,11275947,11113897,10820877,9555580,9286460,9128935,8333769,8151648,7910700,7868072,6942420,2845262,2654340,2347891,2327863,2051454,1603635,1548341,37937642,37820732,37529055,37315542,37055165,36795902,36728277,36405817,36267864,36183116,36148798,35798296,34419044,34345934,34317628,34173222,34012324,32994318,32800279,32523383,31195397,30716700,30625723,30310776,28944240,28600781,28361952,27034882,26947989,26820530,26436113,25555114,25492806,25117570,25092307,25031429,22628261,22414926,22302400,22031837,21215191,21070714,20420029,20020588,18367997,18341092,17300651,15787928,15737708,15260010,12401990,11392528,11158512,9833893,9823492,9605285,8992685,8985485,6823777,3344763,2512615,2251013,568686,34321580,31409296,27789066,23295298,21470284,37948564,37941907,37906847,37887338,37875422,37848703,37805563,37759768,37696161,37694586,37685915,37657628,37651449,37616545,37611151,37605180,37600787,37599126,37569695,37531076,37493943,37479884,37476877,37446365,37445664,37440712,37439148,37431698,37428391,37408231,37373068,37358766,37343154,37338295,37335065,37322808,37316894,37283093,37280225,37239376,37231428,37198380,37195873,37194642,37189345,37183013,37172827,37162340,37115071,37108224,37101010,37099799,37087908,37084633,37079255,37067025,37053547,37042760,37036969,37030549,37010587,37010168,37008935,37004354,36989993,36984475,36976763,36974502,36964979,36960394,36957988,36951304,36949468,36948334,36944910,36901699,36890856,36890748,36866988,36864841,36843573,36796235,36756859,36714562,36709914,36709040,36675185,36662765,36638604,36598514,36597844,36581364,36577365,36573424,36555314,36550675,36501215,36498877,36465608,36446332,36445461,36442838,36427548,36427334,36408747,36394485,36387899,36375730,36372886,36371229,36348013,36307987,36293384,36265659,36206932,36178526,36150888,36125274,36121781,36109727,36102299,36080362,36077267,36076277,36060964,36050749,36042203,36037567,36011279,35992119,35984227,35973989,35966057,35955899,35951005,35943247,35909539,35900661,35836205,35805171,35803942,35797708,35792517,35778809,35769084,35752515,35749012,35633639,35621394,35617141,35610759,35594452,35560280,35458584,35457241,35456463,35456429[uid]

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Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II.

Marzano F, Chiara M, Consiglio A, D'Amato G, Gentile M, Mirabelli V, Piane M, Savio C, Fabiani M, D'Elia D, Sbisà E, Scarano G, Lonardo F, Tullo A, Pesole G, Faienza MF. Marzano F, et al. Int J Mol Sci. 2023 Jul 31;24(15):12291. doi: 10.3390/ijms241512291. Int J Mol Sci. 2023. PMID: 37569667 Free PMC article.

Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in the PCNT gene associated with microcephalic osteodysplastic primordial dwarfism type II.

Petraroli M, Percesepe A, Piane M, Ormitti F, Castellone E, Gnocchi M, Messina G, Bernardi L, Patianna VD, Esposito SMR, Street ME. Petraroli M, et al. Front Endocrinol (Lausanne). 2023 May 10;14:1018441. doi: 10.3389/fendo.2023.1018441. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37234811 Free PMC article.

Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly.

Sabbagh Q, Tharreau M, Cenni C, Sanchez E, Ruiz-Pallares N, Alkar F, Amouroux C, David S, Prodhomme O, Leboucq N, Meunier I, Bessis D, Theron A, Barat-Houari M, Willems M. Sabbagh Q, et al. Eur J Med Genet. 2023 May;66(5):104733. doi: 10.1016/j.ejmg.2023.104733. Epub 2023 Feb 25. Eur J Med Genet. 2023. PMID: 36842471

In-frame deletion of SMC5 related with the phenotype of primordial dwarfism, chromosomal instability and insulin resistance.

Zhu W, Shi Y, Zhang C, Peng Y, Wan Y, Xu Y, Liu X, Han B, Zhao S, Kuang Y, Song H, Qiao J. Zhu W, et al. Clin Transl Med. 2023 Jan;13(1):e1007. doi: 10.1002/ctm2.1007. Clin Transl Med. 2023. PMID: 36627765 Free PMC article.

Renal Dysplasia and Precocious Diabetes Onset in Microcephalic Osteodysplastic Primordial Dwarfism Type II Syndrome: A Case Report.

Segovia-Ortí R, Espinosa de Los Monteros Aliaga Cano N, Lumbreras J, Sotto-Esteban D, Rodrigo MD. Segovia-Ortí R, et al. J Pediatr Genet. 2020 Sep 7;11(2):158-161. doi: 10.1055/s-0040-1716399. eCollection 2022 Jun. J Pediatr Genet. 2020. PMID: 35769963 Free PMC article.

Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys.

Hettiarachchi D, Subasinghe SMV, Anandagoda GG, Panchal H, Lai PS, Dissanayake VHW. Hettiarachchi D, et al. BMC Med Genomics. 2022 Apr 14;15(1):82. doi: 10.1186/s12920-022-01226-8. BMC Med Genomics. 2022. PMID: 35422036 Free PMC article.

Microcephalic primordial dwarfism with predominant Meier-Gorlin phenotype, ichthyosis, and multiple joint deformities-Further expansion of DONSON Cell Cycle-opathy phenotypic spectrum.

Nerakh G, Vineeth VS, Tallapaka K, Nair L, Dalal A, Aggarwal S. Nerakh G, et al. Am J Med Genet A. 2022 Jul;188(7):2139-2146. doi: 10.1002/ajmg.a.62725. Epub 2022 Mar 17. Am J Med Genet A. 2022. PMID: 35298084

Microcephalic Osteodysplastic Primordial Dwarfism Type II.

Duker A, Jackson A, Bober MB. Duker A, et al. 2021 Dec 30 [updated 2023 Mar 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. 2021 Dec 30 [updated 2023 Mar 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 34978779 Free Books & Documents. Review.

Microcephalic Osteodysplastic Primordial Dwarfism Type II With Associated Glucose-6-Phosphate Dehydrogenase Deficiency in a Saudi Girl.

Busaleh F, Alnofaily H, Al Ghadeer HA, Albahrani FA, Alatiyyah HA, Alshaikh SB, Alhamrani AM, Hassan W, Alatiya J, Alnaqaa J. Busaleh F, et al. Cureus. 2021 Nov 23;13(11):e19829. doi: 10.7759/cureus.19829. eCollection 2021 Nov. Cureus. 2021. PMID: 34963845 Free PMC article.

A 10-Year-Old Boy with Short Stature and Microcephaly, Diagnosed with Moyamoya Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II).

Eslava A, Garcia-Puig M, Corripio R. Eslava A, et al. Am J Case Rep. 2021 Dec 19;22:e933919. doi: 10.12659/AJCR.933919. Am J Case Rep. 2021. PMID: 34923567 Free PMC article.

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