Acid-Labile Subunit Deficiency and Growth Failure: Description of Two Novel Cases | Zendy

Alessia David | Zendy; Stephen Rose | Zendy; Farideh MirakiMoud | Zendy; Lou Metherell | Zendy; Martin O. Savage | Zendy; Adrian Clark | Zendy; C Camacho-Hübner | Zendy

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Acid-Labile Subunit Deficiency and Growth Failure: Description of Two Novel Cases

Author(s) -

Alessia David,

Stephen Rose,

Farideh MirakiMoud,

Lou Metherell,

Martin O. Savage,

Adrian Clark,

C Camacho-Hübner

Publication year - 2010

Publication title -

hormone research in paediatrics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.816

H-Index - 89

eISSN - 1663-2826

pISSN - 1663-2818

DOI - 10.1159/000308164

Subject(s) - missense mutation , short stature , medicine , growth hormone receptor , endocrinology , frameshift mutation , idiopathic short stature , mutation , compound heterozygosity , growth hormone deficiency , gene , chemistry , genetics , biology , growth hormone , hormone

Mutations in the acid-labile subunit (ALS) gene (IGFALS) have been associated with circulating insulin-like growth factor I (IGF-I) deficiency and short stature. Whether severe pubertal delay is also part of the phenotype remains controversial due to the small number of cases reported. We report 2 children with a history of growth failure due to novel IGFALS mutations.

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