A Case of Functional Growth Hormone Deficiency and Early Growth Retardation in a Child With IFT172 Mutations
Author(s) -
Angela K LucasHerald,
Esther Kinning,
Aritoshi Iida,
Zheng Wang,
Noriko Miyake,
Shiro Ikegawa,
Jane McNeilly,
S. Faisal Ahmed
Publication year - 2015
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2014-3852
Subject(s) - ciliopathies , short stature , context (archaeology) , growth retardation , growth hormone , pediatrics , medicine , psychology , endocrinology , developmental psychology , biology , hormone , genetics , phenotype , gene , pregnancy , paleontology
Ciliopathies are a group of rare conditions that present through a wide range of manifestations. Given the relative common occurrence of defects of the GH/IGF-I axis in children with short stature and growth retardation, the association between ciliopathies and these defects needs further attention.
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