DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature

DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature

Abstract Background DYRK1A‐Related Intellectual Disability Syndrome is a rare autosomal dominant condition characterized by intellectual disability, speech and language delays, microcephaly, facial dysmorphism, and feeding difficulties. Affected individuals represent simplex cases that result from d...

وصف كامل

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Laura E. Meissner, Ellen F. Macnamara, Precilla D'Souza, John Yang, Gilbert Vezina, Undiagnosed Diseases Network, Carlos R. Ferreira, Wadih M. Zein, Cynthia J. Tifft, David R. Adams
التنسيق: مقال
اللغة:English
منشور في: Wiley 2020-12-01
سلاسل:Molecular Genetics & Genomic Medicine
الموضوعات:
autosomal dominant mental retardation 7
Down syndrome
DYRK1A
feeding difficulties
microcephaly
الوصول للمادة أونلاين:https://doi.org/10.1002/mgg3.1544

الانترنت

https://doi.org/10.1002/mgg3.1544

مواد مشابهة