A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia: ALHARBY et al

Journal article

Peer reviewed

E. Alharby, A.M. Albalawi, A. Nasir, S.A. Alhijji, A. Mahmood, K. Ramzan, F. Abdusamad, A. Aljohani, O. Abdelsalam, A. Eldardear, …

Clinical genetics, Vol.92(6), pp.579-586

12/2017

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Title: A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia
Creators - without role: E. Alharby - Taibah University
A.M. Albalawi - Taibah University
A. Nasir - Ajou University
S.A. Alhijji
A. Mahmood - King Khalid University Hospital
K. Ramzan - King Faisal Specialist Hospital & Research Centre
F. Abdusamad - Taibah University
A. Aljohani - Taibah University
O. Abdelsalam
A. Eldardear - Taibah University
S. Basit - Taibah University
Publication Details: Clinical genetics, Vol.92(6), pp.579-586
Identifiers: 9929632908331
Academic Unit: Taibah University
Language: English
Resource Type: Journal article