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Insulin-like growth factor 1 transport protein deficiency

The deficiency of IGF transport protein is an autosomal recessive disorder. It is characterized by mild growth and developmental delay which cannot be improved by growth hormone (GH) substitution. Characteristically, GH application is not followed by an increase of IGF in plasma.

Systematic

Growth hormone insensitivity
Growth hormone insensitivity with immunodeficiency
IGFBP3
Insulin-like growth factor 1 deficiency
Insulin-like growth factor 1 resistance
Insulin-like growth factor 1 transport protein deficiency
IGFALS
Laron syndrome
SH2B1

References:

1.

Masui T et al. (2007) Early pancreatic development requires the vertebrate Suppressor of Hairless (RBPJ) in the PTF1 bHLH complex.

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2.

Al-Shammari M et al. (2011) A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement.

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3.

Yorifuji T et al. (2012) Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation.

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4.

Weedon MN et al. (2014) Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.

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5.

Yu L et al. (2014) Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.

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6.

Rosas M et al. (2014) The transcription factor Gata6 links tissue macrophage phenotype and proliferative renewal.

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7.

Orphanet article

Orphanet ID 291853 external link
8.

Wikipedia article

Wikipedia EN (GATA6) external link
Update: Aug. 14, 2020
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