Open AccessA Nonsense Mutation in the Hedgehog Receptor CDON Associated With Pituitary Stalk Interruption Syndrome
Author(s) -
Anu Bashamboo,
Joëlle Big-Topalovic,
Hassan Rouba,
Ken McElreavey,
Raja Brauner
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.2015-2995
Subject(s) - biology , exome sequencing , genetics , nonsense mutation , mutation , exome , holoprosencephaly , sonic hedgehog , endocrinology , gene , missense mutation , pregnancy , fetus
Pituitary stalk interruption syndrome (PSIS) and holoprosencephaly (HPE) are congenital midline defects. Rare mutations in the sonic hedgehog (SHH) signaling gene CDON have recently been reported in patients with HPE.
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