A mosaic form of microphthalmia with linear skin defects

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A mosaic form of microphthalmia with linear skin defects

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im August 2018 veröffentlichter wissenschaftlicher Artikel

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wetenschappelijk artikel

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наукова стаття, опублікована в серпні 2018

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A mosaic form of microphthalmia with linear skin defects

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A mosaic form of microphthalmia with linear skin defects

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A mosaic form of microphthalmia with linear skin defects

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A mosaic form of microphthalmia with linear skin defects

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A mosaic form of microphthalmia with linear skin defects

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A mosaic form of microphthalmia with linear skin defects

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P1476

A mosaic form of microphthalmia with linear skin defects

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Andreja Golub

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Andreja Zagorac

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Bojan Korpar

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Boris Zagradišnik

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Nadja Kokalj Vokač

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Nina Prepeluh

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P2860

Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease

Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome

De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies

Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome.

Microphthalmia with Linear Skin Defects (MLS) associated with Autism Spectrum Disorder (ASD) in a patient with Familial 12.9Mb Terminal Xp deletion

Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome.

Cytochrome C-mediated apoptosis.

Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome.

Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders.

Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS).

P2888

s12887-018-1234-4

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254

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scholarly article

case report

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10.1186/S12887-018-1234-4

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English

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P478

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P577

2018-08-01T00:00:00Z

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P6179

1105945819

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30068298

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6090767

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