Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome

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Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年學術文章

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Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome

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Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome

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Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome

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Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome

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Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome

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Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome

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P1476

Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome

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P2093

Ryan J Taft

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P2860

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.

Ccbe1 is required for embryonic lymphangiogenesis and venous sprouting.

Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.

A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression.

The lymphatic vasculature in disease.

Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema

Vegfc/Flt4 signalling is suppressed by Dll4 in developing zebrafish intersegmental arteries.

Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation.

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.

P304

2694-2697

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P31

scholarly article

P356

10.1002/AJMG.A.37803

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P407

English

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P478

170

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P50

P577

2016-06-27T00:00:00Z

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P698

27345729

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