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Quoted phrase not found in phrase index: "Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome"
Page 1
Noonan syndrome.
Bhambhani V, Muenke M. Bhambhani V, et al. Am Fam Physician. 2014 Jan 1;89(1):37-43. Am Fam Physician. 2014. PMID: 24444506 Free PMC article.
Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. ...Familial recurrence is consistent with an autosomal dominant mode of inheritance, but most cases are …
Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potent …
Noonan syndrome.
van der Burgt I. van der Burgt I. Orphanet J Rare Dis. 2007 Jan 14;2:4. doi: 10.1186/1750-1172-2-4. Orphanet J Rare Dis. 2007. PMID: 17222357 Free PMC article. Review.
Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. ...The syndrome is transmitted as an autosomal dominant trait. In approximately 50% of cases, the disease is caused …
Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects …
White-Sutton syndrome and congenital heart disease: case report and literature review.
Duan J, Ye Y, Liao J, Chen L, Zhao X, Liu C, Wen J. Duan J, et al. BMC Pediatr. 2023 Apr 4;23(1):158. doi: 10.1186/s12887-023-03972-9. BMC Pediatr. 2023. PMID: 37016333 Free PMC article. Review.
BACKGROUND: White-Sutton syndrome is an autosomal dominant neurodevelopmental disorder caused by heterozygous mutation in POGZ (Pogo Transposable Element Derived with ZNF Domain). ...The relationship between congenital heart disease and White-Su …
BACKGROUND: White-Sutton syndrome is an autosomal dominant neurodevelopmental disorder caused by heterozygous mutation …
Prenatal presentation and diagnosis of Baraitser-Winter syndrome using exome sequencing.
Zhang K, Cox E, Strom S, Xu ZL, Disilvestro A, Usrey K. Zhang K, et al. Am J Med Genet A. 2020 Sep;182(9):2124-2128. doi: 10.1002/ajmg.a.61725. Epub 2020 Jun 26. Am J Med Genet A. 2020. PMID: 32588558
Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) is a rare autosomal dominant developmental disorder associated with missense mutations in the genes ACTB or ACTG1. The classic presentation of BWCFF is discerned by the combination of unique craniofacial c …
Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) is a rare autosomal dominant developmental disorder associated wi …
Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome.
Yamada M, Suzuki H, Futagawa H, Takenouchi T, Miya F, Yoshihashi H, Kosaki K. Yamada M, et al. Eur J Med Genet. 2022 Jun;65(6):104512. doi: 10.1016/j.ejmg.2022.104512. Epub 2022 Apr 18. Eur J Med Genet. 2022. PMID: 35439611
From the standpoint of genetic counseling, OFD syndrome type1, the prototypic form of OFD, exhibits an X-linked dominant inheritance pattern, whereas other forms of OFD syndrome exhibit an autosomal recessive inheritance pattern. Recognition of CAFD2 a …
From the standpoint of genetic counseling, OFD syndrome type1, the prototypic form of OFD, exhibits an X-linked dominant inher …
Clinical phenotypes and molecular findings in ten Chinese patients with Kleefstra Syndrome Type 1 due to EHMT1 defects.
Huang Q, Xiong H, Tao Z, Yue F, Xiao N. Huang Q, et al. Eur J Med Genet. 2021 Sep;64(9):104289. doi: 10.1016/j.ejmg.2021.104289. Epub 2021 Jul 12. Eur J Med Genet. 2021. PMID: 34265435
BACKGROUND: Kleefstra syndrome type 1 (KS1, OMIM#610253) is a rare autosomal-dominant Mendelian disorder due to heterozygous mutations in the EHMT1 gene or heterozygous deletion of genomic segment of 9q34.3(9qdel). Neurodevelopmental disorder (NDD), intell …
BACKGROUND: Kleefstra syndrome type 1 (KS1, OMIM#610253) is a rare autosomal-dominant Mendelian disorder due to heteroz …
Genetic of preimplantation diagnosis of dysmorphic facial features and intellectual developmental disorder (CHDFIDD) without congenital heart defects.
Cui X, Wu X, Wang H, Zhang S, Wang W, Jing X. Cui X, et al. Mol Genet Genomic Med. 2022 Feb;10(2):e1863. doi: 10.1002/mgg3.1863. Epub 2022 Jan 16. Mol Genet Genomic Med. 2022. PMID: 35034425 Free PMC article.
Recent evidence suggests that heterozygous variants in CDK13 are associated with a syndromic form of mental deficiency and developmental delay, which is inherited in an autosomal dominant manner. ...RESULTS: We studied two patients in a Chinese family with a …
Recent evidence suggests that heterozygous variants in CDK13 are associated with a syndromic form of mental deficiency and developmen …
Autosomal dominant mannose-binding lectin deficiency is associated with worse neurodevelopmental outcomes after cardiac surgery in infants.
Kim DS, Li YK, Kim JH, Bergquist CS, Gerdes M, Bernbaum JC, Burnham N, McDonald-McGinn DM, Zackai EH, Nicolson SC, Spray TL, Nickerson DA, Hakonarson H, Jarvik GP, Gaynor JW. Kim DS, et al. J Thorac Cardiovasc Surg. 2018 Mar;155(3):1139-1147.e2. doi: 10.1016/j.jtcvs.2017.08.035. Epub 2017 Dec 7. J Thorac Cardiovasc Surg. 2018. PMID: 29452463 Free PMC article.
METHODS: This is an analysis of a previously described cohort of patients with nonsyndromic congenital heart disease who underwent cardiac surgery with cardiopulmonary bypass before age 6 months (n = 295). ...CONCLUSIONS: We report the novel finding that carr …
METHODS: This is an analysis of a previously described cohort of patients with nonsyndromic congenital heart disease who under …
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.
Ockeloen CW, Willemsen MH, de Munnik S, van Bon BW, de Leeuw N, Verrips A, Kant SG, Jones EA, Brunner HG, van Loon RL, Smeets EE, van Haelst MM, van Haaften G, Nordgren A, Malmgren H, Grigelioniene G, Vermeer S, Louro P, Ramos L, Maal TJ, van Heumen CC, Yntema HG, Carels CE, Kleefstra T. Ockeloen CW, et al. Eur J Hum Genet. 2015 Sep;23(9):1176-85. doi: 10.1038/ejhg.2014.253. Epub 2014 Nov 26. Eur J Hum Genet. 2015. PMID: 25424714 Free PMC article.
Loss-of-function variants in ANKRD11 were identified as the cause of KBG syndrome, an autosomal dominant syndrome with specific dental, neurobehavioural, craniofacial and skeletal anomalies. ...One-third of patients presented with (conductive) h …
Loss-of-function variants in ANKRD11 were identified as the cause of KBG syndrome, an autosomal dominant syndrome …
Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene.
Vinci M, Kursula P, Greco D, Elia M, Vetri L, Schepis C, Chiavetta V, Donadio S, Roccella M, Carotenuto M, Romano V, Calì F. Vinci M, et al. Mol Genet Genomic Med. 2022 Sep;10(9):e2012. doi: 10.1002/mgg3.2012. Epub 2022 Jul 5. Mol Genet Genomic Med. 2022. PMID: 35789128 Free PMC article.
METHODS: Here, we report a female 24-year-old patient diagnosed with a cardio-facio-cutaneous-like phenotype (CFC-like), characterized by epilepsy, psychomotor development delay, atopic dermatitis, congenital heart disease, hypotonia, and facial dysmorphism, who is …
METHODS: Here, we report a female 24-year-old patient diagnosed with a cardio-facio-cutaneous-like phenotype (CFC-like), characterized by ep …
36 results