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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Saudi J Biol Sci
Main Authors: Naseer, Muhammad Imran, Abdulkareem, Angham Abdulrahman, Jan, Mohammed M., Chaudhary, Adeel G., Alharazy, Shatha, AlQahtani, Mohammad H.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2020
Assuntos:
Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7569139/
https://ncbi.nlm.nih.gov/pubmed/33100873
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.sjbs.2020.09.033
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados