Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities.

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Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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Updated strategies for the man ...... prominent hair abnormalities.

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Updated strategies for the man ...... prominent hair abnormalities.

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label

Updated strategies for the man ...... prominent hair abnormalities.

@en

Updated strategies for the man ...... prominent hair abnormalities.

@nl

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Updated strategies for the man ...... prominent hair abnormalities.

@en

Updated strategies for the man ...... prominent hair abnormalities.

@nl

P1476

Updated strategies for the man ...... h prominent hair abnormalities

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P2093

Afifa Zaeem

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Asma Gul

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Imran Afzal

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Madiha Rasheed

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Sumbal Khalid

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P2860

IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response

Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing

Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping.

Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations

Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder

Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome

Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families

A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A

Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH

Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH

P2888

s00403-017-1780-x

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773-785

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scholarly article

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10.1007/S00403-017-1780-X

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P433

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P478

309

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Shaheen Shahzad

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2017-09-14T00:00:00Z

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28913623

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