Clinical utility gene card for: Mayer-Rokitansky-Küster-Hauser syndrome.

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A genome-wide screen for copy number alterations in an adolescent pilot cohort with müllerian anomalies.Clinical and genetic aspects of Mayer-Rokitansky-Küster-Hauser syndrome.Etiologies of uterine malformations.

P2860

Q35768004-03F4AC9C-413A-478C-A918-8449ABA5C304 Q52661767-75776D71-4324-4F5D-9485-13AFDFBD2492 Q53087377-0EA0FB13-8E4A-434C-B63B-8D76E78ECF19

P2860

Clinical utility gene card for: Mayer-Rokitansky-Küster-Hauser syndrome.

Item

http://www.wikidata.org/entity/Q35679731

description

2011 nî lūn-bûn

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

@zh-tw

2011年论文

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2011年论文

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2011年论文

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name

Clinical utility gene card for: Mayer-Rokitansky-Küster-Hauser syndrome.

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Clinical utility gene card for: Mayer-Rokitansky-Küster-Hauser syndrome.

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type

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label

Clinical utility gene card for: Mayer-Rokitansky-Küster-Hauser syndrome.

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Clinical utility gene card for: Mayer-Rokitansky-Küster-Hauser syndrome.

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Clinical utility gene card for: Mayer-Rokitansky-Küster-Hauser syndrome.

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Clinical utility gene card for: Mayer-Rokitansky-Küster-Hauser syndrome.

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P1476

Clinical utility gene card for: Mayer-Rokitansky-Küster-Hauser syndrome.

@en

P2093

Daniel Guerrier

http://www.w3.org/2001/XMLSchema#string

Karine Morcel

http://www.w3.org/2001/XMLSchema#string

Laura Bernardini

http://www.w3.org/2001/XMLSchema#string

Laurent Pasquier

http://www.w3.org/2001/XMLSchema#string

Tanguy Watrin

http://www.w3.org/2001/XMLSchema#string

P2860

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome

A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta.

Phenotypic variability of a 4q34-->qter inherited deletion: MRKH syndrome in the daughter, cardiac defect and Fallopian tube cancer in the mother.

Müllerian agenesis: etiology, diagnosis, and management.

Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci.

High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia

WNT4 and sex development.

Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports.

Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome.

SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome.

P2888

ejhg.2011.158

P304

198-202

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P31

scholarly article

P356

10.1038/EJHG.2011.158

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P433

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P478

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P50

Bruno Dallapiccola

P577

2011-09-07T00:00:00Z

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P5875

51624744

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P698

21897448

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P932

3260917

http://www.w3.org/2001/XMLSchema#string

Clinical utility gene card for: Mayer-Rokitansky-Küster-Hauser syndrome.

about

P2860

P2860

Clinical utility gene card for: Mayer-Rokitansky-Küster-Hauser syndrome.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P932

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P932