Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.

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De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

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Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.

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2017 nî lūn-bûn

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Clinical relevance of systemat ...... n patients with short stature.

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Clinical relevance of systemat ...... n patients with short stature.

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Clinical relevance of systemat ...... n patients with short stature.

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Clinical relevance of systemat ...... n patients with short stature.

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Clinical relevance of systemat ...... n patients with short stature.

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Clinical relevance of systemat ...... n patients with short stature.

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P1476

Clinical relevance of systemat ...... in patients with short stature

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Alfonso Hisado-Oliva

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Antje Wiesener

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Arif B Ekici

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Bernt Popp

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Christian Büttner

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Cornelia Kraus

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Dagmar Wieczorek

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Erdmute Kunstmann

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Eva Schoeller

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Helmuth-Günther Dörr

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Assumption-free estimation of heritability from genome-wide identity-by-descent sharing between full siblings

Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature

Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature

Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature

Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

KDM6A point mutations cause Kabuki syndrome

Germline KRAS mutations cause Noonan syndrome

Rare and low-frequency coding variants alter human adult height

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gim.2017.159

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630-638

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scholarly article

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10.1038/GIM.2017.159

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English

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2017-10-12T00:00:00Z

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1092190745

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29758562

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5993671

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Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.

about

P2860

P2860

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P407

P433

P478

P50

P577

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P698

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P407

P433

P478

P50

P577

P6179

P698

P932