Functional Characterization of a Heterozygous GLI2 Missense Mutation in Patients With Multiple Pituitary Hormone Deficiency | Zendy

Gunter Flemming | Zendy; Jürgen Klammt | Zendy; Geoffrey Ambler | Zendy; Yizhong Bao | Zendy; Werner Blum | Zendy; Christopher T. Cowell | Zendy; Kim C. Donaghue | Zendy; N. J. Howard | Zendy; Anil Kumar | Zendy; Janine Sanchez | Zendy; H Stobbe | Zendy; Roland Pfäffle | Zendy

Open Access

Functional Characterization of a Heterozygous GLI2 Missense Mutation in Patients With Multiple Pituitary Hormone Deficiency

Author(s) -

Gunter Flemming,

Jürgen Klammt,

Geoffrey Ambler,

Yizhong Bao,

Werner Blum,

Christopher T. Cowell,

Kim C. Donaghue,

N. J. Howard,

Anil Kumar,

Janine Sanchez,

H Stobbe,

Roland Pfäffle

Publication year - 2013

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.2012-3224

Subject(s) - gli2 , missense mutation , hypopituitarism , biology , growth hormone deficiency , holoprosencephaly , penetrance , endocrinology , genetics , compound heterozygosity , mutation , loss function , phenotype , medicine , sonic hedgehog , gene , hormone , growth hormone , pregnancy , fetus

The GLI2 transcription factor is a major effector protein of the sonic hedgehog pathway and suggested to play a key role in pituitary development. Genomic GLI2 aberrations that mainly result in truncated proteins have been reported to cause holoprosencephaly or holoprosencephaly-like features, sometimes associated with hypopituitarism.

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