Compound heterozygosity for two GHR missense mutations in a patient affected by Laron Syndrome: a case report.

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Growth Hormone Receptor Mutations Related to Individual Dwarfism.

P2860

Q54110794-98FA380C-EA79-4937-BB5D-F6B94AD13A04

P2860

Compound heterozygosity for two GHR missense mutations in a patient affected by Laron Syndrome: a case report.

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Compound heterozygosity for tw ...... Laron Syndrome: a case report.

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Compound heterozygosity for tw ...... Laron Syndrome: a case report.

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Compound heterozygosity for tw ...... Laron Syndrome: a case report.

@en

Compound heterozygosity for tw ...... Laron Syndrome: a case report.

@nl

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Compound heterozygosity for tw ...... Laron Syndrome: a case report.

@en

Compound heterozygosity for tw ...... Laron Syndrome: a case report.

@nl

P1476

Compound heterozygosity for tw ...... Laron Syndrome: a case report.

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P2093

Daniele Tessaris

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Flavia Prodam

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Gianni Bona

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Luisa de Sanctis

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Silvia Einaudi

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Simonetta Bellone

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Stefania Moia

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P275

Creative Commons Attribution 4.0 International

P2860

Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism

Laron syndrome (primary growth hormone resistance or insensitivity): the personal experience 1958-2003

Genetic pituitary dwarfism with high serum concentration of growth hormone--a new inborn error of metabolism?

Chromosome mapping of the growth hormone receptor gene in man and mouse

Structural design and molecular evolution of a cytokine receptor superfamily

Growth hormone insensitivity: physiologic and genetic basis, phenotype, and treatment.

Physiology and disorders of the growth hormone receptor (GHR) and GH-GHR signal transduction.

Ligand-independent growth hormone receptor dimerization occurs in the endoplasmic reticulum and is required for ubiquitin system-dependent endocytosis

Heterozygous mutations of growth hormone receptor gene in children with idiopathic short stature.

Growth hormone (GH) insensitivity due to primary GH receptor deficiency.

P2888

s13052-017-0411-7

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scholarly article

case report

review article

P356

10.1186/S13052-017-0411-7

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P478

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ScienceSource

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2017-10-12T00:00:00Z

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1092191644

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29025428

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cell surface receptor

genetic variation

membrane proteins

Laron syndrome

P932

5639735

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Compound heterozygosity for two GHR missense mutations in a patient affected by Laron Syndrome: a case report.

about

P2860

P2860

Compound heterozygosity for two GHR missense mutations in a patient affected by Laron Syndrome: a case report.

description

name

type

label

prefLabel

P1433

P1476

P2093

P275

P2860

P2888

P304

P31

P356

P433

P478

P5008

P577

P6179

P698

P921

P932

P356

P1433

P1476

P2093

P275

P2860

P2888

P304

P31

P356

P433

P478

P5008

P577

P6179

P698

P921

P932