Unilateral vestibular schwannoma and meningiomas in a patient with PIK3CA-related segmental overgrowth: Co-occurrence of mosaicism for 2 rare disorders.

about

Clinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G > A mutation in PIK3CA gene

P2860

Q58719016-B7686761-B110-4C07-889E-2C5A4F9318C6

P2860

Unilateral vestibular schwannoma and meningiomas in a patient with PIK3CA-related segmental overgrowth: Co-occurrence of mosaicism for 2 rare disorders.

Item

http://www.wikidata.org/entity/Q47688861

description

2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年学术文章

@wuu

2017年学术文章

@zh-cn

2017年学术文章

@zh-hans

2017年学术文章

@zh-my

2017年学术文章

@zh-sg

2017年學術文章

@yue

2017年學術文章

@zh

2017年學術文章

@zh-hant

name

Unilateral vestibular schwanno ...... osaicism for 2 rare disorders.

@en

Unilateral vestibular schwanno ...... osaicism for 2 rare disorders.

@nl

type

Item

label

Unilateral vestibular schwanno ...... osaicism for 2 rare disorders.

@en

Unilateral vestibular schwanno ...... osaicism for 2 rare disorders.

@nl

prefLabel

Unilateral vestibular schwanno ...... osaicism for 2 rare disorders.

@en

Unilateral vestibular schwanno ...... osaicism for 2 rare disorders.

@nl

P1476

Unilateral vestibular schwanno ...... mosaicism for 2 rare disorders

@en

P2093

A B Poplawski

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

A M Moyer

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

B R Kipp

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

D Babovic-Vuksanovic

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

L M Messiaen

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

P2860

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.

The misnomer "macrocephaly-cutis marmorata telangiectatica congenita syndrome": report of 12 new cases and support for revising the name to macrocephaly-capillary malformations.

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.

Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-based study.

Aggressive phenotypic and genotypic features in pediatric and NF2-associated meningiomas: a clinicopathologic study of 53 cases.

Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations.

Macrocephaly with cutis marmorata, haemangioma and syndactyly ??? a distinctive overgrowth syndrome

P304

187-190

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

P31

scholarly article

P356

10.1111/CGE.13099

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

P433

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

P478

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

P50

J R Mills

P577

2017-11-29T00:00:00Z

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

P698

28737257

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

Unilateral vestibular schwannoma and meningiomas in a patient with PIK3CA-related segmental overgrowth: Co-occurrence of mosaicism for 2 rare disorders.

about

P2860

P2860

Unilateral vestibular schwannoma and meningiomas in a patient with PIK3CA-related segmental overgrowth: Co-occurrence of mosaicism for 2 rare disorders.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698