Clinical and Functional Characteristics of a Novel Heterozygous Mutation of theIGF1RGene and IGF1R Haploinsufficiency due to Terminal 15q26.2->qter Deletion in Patients with Intrauterine Growth Retardation and Postnatal Catch-Up Growth Failure | Zendy

JinHo Choi | Zendy; Minji Kang | Zendy; Gu-Hwan Kim | Zendy; Maria Hong | Zendy; Hye Young Jin | Zendy; Beom Hee Lee | Zendy; Jung-Young Park | Zendy; Se-Min Lee | Zendy; EulJu Seo | Zendy; HanWook Yoo | Zendy

Open Access

Clinical and Functional Characteristics of a Novel Heterozygous Mutation of theIGF1RGene and IGF1R Haploinsufficiency due to Terminal 15q26.2->qter Deletion in Patients with Intrauterine Growth Retardation and Postnatal Catch-Up Growth Failure

Author(s) -

JinHo Choi,

Minji Kang,

Gu-Hwan Kim,

Maria Hong,

Hye Young Jin,

Beom Hee Lee,

Jung-Young Park,

Se-Min Lee,

EulJu Seo,

HanWook Yoo

Publication year - 2010

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.2010-1789

Subject(s) - haploinsufficiency , growth retardation , genetics , mutation , insulin like growth factor 1 receptor , gene , terminal (telecommunication) , gene deletion , medicine , biology , phenotype , computer science , growth factor , pregnancy , receptor , telecommunications , mutant

Mutations in the IGF1R gene result in intrauterine growth retardation and postnatal growth failure.

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