An Association of and Mutations in a Male Presenting With Syndromic Growth Failure

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An Association of and Mutations in a Male Presenting With Syndromic Growth Failure

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http://www.wikidata.org/entity/Q57191695

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wetenschappelijk artikel

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наукова стаття, опублікована у 2018

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An Association of and Mutations in a Male Presenting With Syndromic Growth Failure

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An Association of and Mutations in a Male Presenting With Syndromic Growth Failure

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Item

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An Association of and Mutations in a Male Presenting With Syndromic Growth Failure

@en

An Association of and Mutations in a Male Presenting With Syndromic Growth Failure

@nl

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An Association of and Mutations in a Male Presenting With Syndromic Growth Failure

@en

An Association of and Mutations in a Male Presenting With Syndromic Growth Failure

@nl

P1476

An Association of and Mutations in a Male Presenting With Syndromic Growth Failure

@en

P2093

Benedetta Di Felice

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Emanuela Savarese

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Federica Celi

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Francesco Crescenzi

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Francesco Miconi

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Gabriele Cabiati

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Susanna Esposito

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P2860

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

Noonan syndrome

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

Defining the role of common variation in the genomic and biological architecture of adult human height.

The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome.

Italian cross-sectional growth charts for height, weight and BMI (2 to 20 yr).

Short Stature in Isodicentric Y Chromosome and Three Copies of the SHOX Gene: Clinical Report and Review of Literature.

The Biology of Stature

P304

557

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P31

scholarly article

case report

P356

10.3389/FENDO.2018.00557

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P407

English

P478

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P50

Nicola Principi

P577

2018-01-01T00:00:00Z

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P698

30294303

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P932

6158368

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