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Clinical and Molecular Characterisation of Children with Pierre Robin Sequence and Additional Anomalies.
Xu JX, Kilpatrick N, Baker NL, Penington A, Farlie PG, Tan TY. Xu JX, et al. Mol Syndromol. 2016 Nov;7(6):322-328. doi: 10.1159/000449115. Epub 2016 Sep 15. Mol Syndromol. 2016. PMID: 27920635 Free PMC article.
Pierre Robin Sequence (PRS) is usually classified into syndromic and nonsyndromic groups, with a further subclassification of the nonsyndromic group into isolated PRS and PRS with additional anomalies (PRS-Plus). ...We identified 141 children …
Pierre Robin Sequence (PRS) is usually classified into syndromic and nonsyndromic groups, with a further subclassificat …
ANKRD17-Related Neurodevelopmental Syndrome.
Sveden A, Gordon CT, Amiel J, Chopra M. Sveden A, et al. 2022 Dec 22. 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; 1993–2024. 2022 Dec 22. 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; 1993–2024. PMID: 36548456 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: ANKRD17-related neurodevelopmental syndrome is characterized by developmental delay - particularly affecting speech - and variable intellectual disability. ...Less common but distinctive features include cleft palate with Pierre …
CLINICAL CHARACTERISTICS: ANKRD17-related neurodevelopmental syndrome is characterized by developmental delay - particu …
Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.
Romanelli Tavares VL, Zechi-Ceide RM, Bertola DR, Gordon CT, Ferreira SG, Hsia GS, Yamamoto GL, Ezquina SA, Kokitsu-Nakata NM, Vendramini-Pittoli S, Freitas RS, Souza J, Raposo-Amaral CA, Zatz M, Amiel J, Guion-Almeida ML, Passos-Bueno MR. Romanelli Tavares VL, et al. Am J Med Genet A. 2017 Apr;173(4):938-945. doi: 10.1002/ajmg.a.38101. Am J Med Genet A. 2017. PMID: 28328130
Moreover, only a few patients of each molecular subtype of Auriculocondylar syndrome have been reported and sequenced. Therefore, the spectrum of clinical and genetic variability is still not defined. In order to address these questions, we searched for alter …
Moreover, only a few patients of each molecular subtype of Auriculocondylar syndrome have been reported and sequenced. Therefo …