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Quoted phrase not found in phrase index: "Intellectual disability, autosomal dominant 29"
Page 1
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Cousin MA, Creighton BA, Breau KA, Spillmann RC, Torti E, Dontu S, Tripathi S, Ajit D, Edwards RJ, Afriyie S, Bay JC, Harper KM, Beltran AA, Munoz LJ, Falcon Rodriguez L, Stankewich MC, Person RE, Si Y, Normand EA, Blevins A, May AS, Bier L, Aggarwal V, Mancini GMS, van Slegtenhorst MA, Cremer K, Becker J, Engels H, Aretz S, MacKenzie JJ, Brilstra E, van Gassen KLI, van Jaarsveld RH, Oegema R, Parsons GM, Mark P, Helbig I, McKeown SE, Stratton R, Cogne B, Isidor B, Cacheiro P, Smedley D, Firth HV, Bierhals T, Kloth K, Weiss D, Fairley C, Shieh JT, Kritzer A, Jayakar P, Kurtz-Nelson E, Bernier RA, Wang T, Eichler EE, van de Laar IMBH, McConkie-Rosell A, McDonald MT, Kemppainen J, Lanpher BC, Schultz-Rogers LE, Gunderson LB, Pichurin PN, Yoon G, Zech M, Jech R, Winkelmann J; Undiagnosed Diseases Network; Genomics England Research Consortium; Beltran AS, Zimmermann MT, Temple B, Moy SS, Klee EW, Tan QK, Lorenzo DN. Cousin MA, et al. Nat Genet. 2021 Jul;53(7):1006-1021. doi: 10.1038/s41588-021-00886-z. Epub 2021 Jul 1. Nat Genet. 2021. PMID: 34211179 Free PMC article.
Mice deficient in neuronal betaII-spectrin have defects in cortical organization, developmental delay and behavioral deficiencies. These phenotypes, while less severe, are observed in haploinsufficient animals, suggesting that individuals carrying heterozygous SPTBN1 varia …
Mice deficient in neuronal betaII-spectrin have defects in cortical organization, developmental delay and behavioral deficiencies. These phe …
Novel SETBP1 mutation in a chinese family with intellectual disability.
Wang L, Wang XD, Yang B, Wang XM, Peng YQ, Tan HJ, Xiao HM. Wang L, et al. BMC Med Genomics. 2023 Oct 5;16(1):233. doi: 10.1186/s12920-023-01649-x. BMC Med Genomics. 2023. PMID: 37798664 Free PMC article.

BACKGROUND: Intellectual disability (ID) is characterized by an IQ < 70, which implies below-average intellectual function and a lack of skills necessary for daily living. ...RESULTS: A novel variant, c.942_943insGT (p. Asp316TrpfsTer28), was found in SETB

…

BACKGROUND: Intellectual disability (ID) is characterized by an IQ < 70, which implies below-average intellectual fu

…
A boy with Coffin-Siris syndrome with a novel frameshift mutation in ARID1B.
Park H, Kim MS, Kim J, Jang JH, Choi JM, Lee SM, Cho SY, Jin DK. Park H, et al. Neuro Endocrinol Lett. 2021 Jan;41(6):285-289. Neuro Endocrinol Lett. 2021. PMID: 33714239
Coffin-Siris syndrome (OMIM #135900) is an autosomal dominant inherited disorder, characterized by dysmorphic features, congenital anomalies, and developmental delay. ...Targeted gene panel sequencing identified a novel heterozygous frameshift mutation c.2147_2148in …
Coffin-Siris syndrome (OMIM #135900) is an autosomal dominant inherited disorder, characterized by dysmorphic features, congen …
The orocraniodigital syndrome of Juberg and Hayward.
Verloes A, Le Merrer M, Davin JC, Wittamer P, Abrassart C, Bricteux G, Briard ML. Verloes A, et al. J Med Genet. 1992 Apr;29(4):262-5. doi: 10.1136/jmg.29.4.262. J Med Genet. 1992. PMID: 1583649 Free PMC article. Review.
The main clinical features of this unusual birth defect (six patients from three families described so far) are cleft lip/palate, hypertelorism, bowed and upward slanting eyebrows, thumb hypo/aplasia or proximal/distal thumb displacement, luxation of the radial head, elbow restri …
The main clinical features of this unusual birth defect (six patients from three families described so far) are cleft lip/palate, hypertelor …
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.
Baer S, Afenjar A, Smol T, Piton A, Gérard B, Alembik Y, Bienvenu T, Boursier G, Boute O, Colson C, Cordier MP, Cormier-Daire V, Delobel B, Doco-Fenzy M, Duban-Bedu B, Fradin M, Geneviève D, Goldenberg A, Grelet M, Haye D, Heron D, Isidor B, Keren B, Lacombe D, Lèbre AS, Lesca G, Masurel A, Mathieu-Dramard M, Nava C, Pasquier L, Petit A, Philip N, Piard J, Rondeau S, Saugier-Veber P, Sukno S, Thevenon J, Van-Gils J, Vincent-Delorme C, Willems M, Schaefer E, Morin G. Baer S, et al. Clin Genet. 2018 Jul;94(1):141-152. doi: 10.1111/cge.13254. Epub 2018 May 17. Clin Genet. 2018. PMID: 29574747 Review.
Wiedemann-Steiner syndrome (WSS) is a rare syndromic condition in which intellectual disability (ID) is associated with hypertrichosis cubiti, short stature, and characteristic facies. ...Patients' molecular and clinical features were recorded and compared with the …
Wiedemann-Steiner syndrome (WSS) is a rare syndromic condition in which intellectual disability (ID) is associated with hypert …
Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.
Hamilton MJ, Newbury-Ecob R, Holder-Espinasse M, Yau S, Lillis S, Hurst JA, Clement E, Reardon W, Joss S, Hobson E, Blyth M, Al-Shehhi M, Lynch SA, Suri M; DDD Study. Hamilton MJ, et al. Clin Dysmorphol. 2016 Oct;25(4):135-45. doi: 10.1097/MCD.0000000000000143. Clin Dysmorphol. 2016. PMID: 27465822
Rubinstein-Taybi syndrome (RTS) is an autosomal dominant neurodevelopmental disorder characterized by growth deficiency, broad thumbs and great toes, intellectual disability and characteristic craniofacial appearance. ...Six patients had truncating mut …
Rubinstein-Taybi syndrome (RTS) is an autosomal dominant neurodevelopmental disorder characterized by growth deficiency, broad …