Goltz syndrome in males: A clinical report of a male patient carrying a novel variant and a review of the literature

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Goltz syndrome in males: A clinical report of a male patient carrying a novel variant and a review of the literature

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scientific article published on 21 September 2018

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wetenschappelijk artikel

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наукова стаття, опублікована в листопаді 2018

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Goltz syndrome in males: A cli ...... and a review of the literature

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Goltz syndrome in males: A cli ...... and a review of the literature

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Goltz syndrome in males: A cli ...... and a review of the literature

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Goltz syndrome in males: A cli ...... and a review of the literature

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Goltz syndrome in males: A cli ...... and a review of the literature

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Goltz syndrome in males: A cli ...... and a review of the literature

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P1476

Goltz syndrome in males: A cli ...... and a review of the literature

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P2093

Ann Nordgren

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Catherine Grandpeix-Guyodo

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Dimitris Chatzianastassiou

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Helgi Thor Hjartarson

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Irina Magnusson

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Karin Popovic Silwerfeldt

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Tobias Laurell

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P2860

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

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A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia.

LOVD v.2.0: the next generation in gene variant databases.

Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.

Goltz syndrome and PORCN mosaicism.

Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.

Focal Dermal Hypoplasia with a De novo Mutation p.E300* of PORCN Gene in a Male Infant.

Focal dermal hypoplasia: updates.

Focal dermal hypoplasia: report of a case with myelomeningocele, Arnold-Chiari malformation and hydrocephalus with a review of neurologic manifestations of Goltz syndrome.

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2103-2110

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scholarly article

case report

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10.1002/CCR3.1783

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English

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P478

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Sofia Frisk

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2018-09-21T00:00:00Z

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30455901

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P932

6230642

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