Unusual phenotypic features in a patient with a novel splice mutation in the GHRHR gene.

Unusual phenotypic features in a patient with a novel splice mutation in the GHRHR gene.

Item
http://www.wikidata.org/entity/Q36473963
Two siblings with isolated GH deficiency due to loss-of-function mutation in the GHRHR gene: successful treatment with growth hormone despite late admission and severe growth retardation.Genetics of isolated growth hormone deficiency.Stratified whole genome linkage analysis of Chiari type I malformation implicates known Klippel-Feil syndrome genes as putative disease candidates.Novel growth hormone-releasing hormone receptor gene mutations in Turkish children with isolated growth hormone deficiencyGenetic causes and treatment of isolated growth hormone deficiency-an update.Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD).Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism.Identification and functional analysis of novel human growth hormone-releasing hormone receptor (GHRHR) gene mutations in Japanese subjects with short stature.A 5'UTR SNP of GHRHR locus is associated with body weight and average daily gain in Chinese cattle.
P2860

Unusual phenotypic features in a patient with a novel splice mutation in the GHRHR gene.

Item
http://www.wikidata.org/entity/Q36473963
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh
2008年學術文章
@zh-hant
name
Unusual phenotypic features in a patient with a novel splice mutation in the GHRHR gene.
@ast
Unusual phenotypic features in a patient with a novel splice mutation in the GHRHR gene.
@en
type
label
Unusual phenotypic features in a patient with a novel splice mutation in the GHRHR gene.
@ast
Unusual phenotypic features in a patient with a novel splice mutation in the GHRHR gene.
@en
prefLabel
Unusual phenotypic features in a patient with a novel splice mutation in the GHRHR gene.
@ast
Unusual phenotypic features in a patient with a novel splice mutation in the GHRHR gene.
@en
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P577
P6179
P698
P921
P932
P356
P1433
P1476
Unusual phenotypic features in a patient with a novel splice mutation in the GHRHR gene.
@en
P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P577
P6179
P698
P921
P932