Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review. - Test2 - elhamkhani - TriplyDB

Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review.

Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review.

http://www.wikidata.org/entity/Q34154212

about

A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature Current views on the function of the lymphatic vasculature in health and disease Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.Congenital pulmonary lymphangiectasia Hennekam lymphangiectasia syndrome Prevalence of treated autism spectrum disorders in Aruba.The secreted lymphangiogenic factor CCBE1 is essential for fetal liver erythropoiesis A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression.Cutaneous lymphatics and chronic lymphedema of the head and neck.Infantile hypertrophic pyloric stenosis--genetics and syndromes.The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings.Rare congenital pulmonary malformation with diagnostic challenging: congenital pulmonary lymphangiectasia, report of four autopsy cases and review of literature.Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations.Octreotide in Hennekam syndrome-associated intestinal lymphangiectasia.Development and behaviour in Marshall-Smith syndrome: an exploratory study of cognition, phenotype and autism.Cutaneous manifestations and massive genital involvement in Hennekam syndrome.Hennekam Syndrome: A Case Report.Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia.

P2860

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P2860

Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review.

http://www.wikidata.org/entity/Q34154212

description

2002 nî lūn-bûn

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2002 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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2002年の論文

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2002年論文

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2002年論文

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2002年論文

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2002年論文

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2002年論文

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2002年论文

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name

Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review.

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Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review.

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Lymphedema-lymphangiectasia-mental retardation

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Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review.

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Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review.

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Lymphedema-lymphangiectasia-mental retardation

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prefLabel

Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review.

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Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review.

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Lymphedema-lymphangiectasia-mental retardation

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American Journal of Medical Genetics Part A

P1476

Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review.

@en

P2093

Carlo Bellini

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

Frits Wijburg

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

Greetje De Jong

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

Inge D C Van Balkom

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

Ingeborg Kolbe

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

Judith Allanson

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

Mariel Alders

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

Peter Rowe

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

Raoul C M Hennekam

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

Stan Rockson

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

P2860

Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema

Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome

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

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling

Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6-cM interval on chromosome 15q

The Smith-Lemli-Opitz syndrome.

Persistence of Müllerian derivatives and intestinal lymphangiectasis in two newborn brothers: confirmation of the Urioste syndrome.

Hereditary lymphedema: evidence for linkage and genetic heterogeneity.

[Hennekam syndrome].

A genetic association between microcephaly and lymphedema.

P304

412-421

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scholarly article

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10.1002/AJMG.10707

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4

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112

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11083120

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12376947

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