Next generation sequencing reveals novel homozygous frameshift in PUS7 and splice acceptor variants in AASS gene leading to intellectual disability, developmental delay, dysmorphic feature and microcephaly

Intellectual developmental disorder with abnormal behavior, microcephaly and short stature (IDDABS), (OMIM# 618342) is an autosomal recessive condition described as developmental delay, poor or absent speech, intellectual disability, short stature, mild to progressive microcephaly, delayed psychomot...

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Detalles Bibliográficos
Autores principales: Naseer, Muhammad Imran, Abdulkareem, Angham Abdulrahman, Jan, Mohammed M., Chaudhary, Adeel G., Alharazy, Shatha, AlQahtani, Mohammad H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7569139/
https://www.ncbi.nlm.nih.gov/pubmed/33100873
http://dx.doi.org/10.1016/j.sjbs.2020.09.033

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