Further phenotypic delineation of Alazami syndrome

Alazami syndrome (AS) is an autosomal recessive condition characterized by the cardinal features of severe growth restriction, moderate to severe intellectual disability, and distinctive facial features. Biallelic pathogenic variants of the LARP7, encoding a chaperone of 7SK noncoding RNA, is implic...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2022-08, Vol.188 (8), p.2485-2490
Main Authors: Al‐Hinai, Abdulhamid, Al‐Hashmi, Samiya, Ganesh, Anuradha, Al‐Hashmi, Nadia, Al‐Saegh, Abeer, Al‐Mamari, Watfa, Al‐Murshedi, Fathiya, Al‐Thihli, Khalid, Al‐Kindi, Adila, Al‐Maawali, Almundher
Format: Article
Language:English
Subjects:
Alazami syndrome
autosomal recessive
Coronary artery disease
Heart diseases
Intellectual disabilities
intellectual disability
LARP7
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Summary:Alazami syndrome (AS) is an autosomal recessive condition characterized by the cardinal features of severe growth restriction, moderate to severe intellectual disability, and distinctive facial features. Biallelic pathogenic variants of the LARP7, encoding a chaperone of 7SK noncoding RNA, is implicated in this disease. There are
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.62778