Nalaganje...

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...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v:Saudi J Biol Sci
Main Authors: Naseer, Muhammad Imran, Abdulkareem, Angham Abdulrahman, Jan, Mohammed M., Chaudhary, Adeel G., Alharazy, Shatha, AlQahtani, Mohammad H.
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2020
Teme:
Online dostop: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
Oznake: Označite
Brez oznak, prvi označite!