Conradi-Hünermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects).
about
TM6SF2 and MAC30, new enzyme homologs in sterol metabolism and common metabolic diseaseTargeting epidermal lipids for treatment of Mendelian disorders of cornification.Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome.Genodermatoses caused by genetic mosaicism.Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.A practical approach to ichthyoses with systemic manifestations.Liver and the defects of cholesterol and bile acids biosynthesis: Rare disorders many diagnostic pitfalls.An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene.Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.
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Q34677873-642250F6-AB00-4351-A78A-9DCB0BD32495Q37684162-A357A4D1-70EB-4985-824F-17FFD139E286Q38050085-4CE2DA4E-FDC4-4CBF-813C-DA3F16A04A11Q38056850-D81D95EE-87EF-489B-BA21-F4AEDEABCF92Q38342329-2D6C5994-B4FE-4F86-8F46-6C6780DF2B5CQ38885938-B40AF613-AD4C-405F-8D2C-3A27CFD25FF1Q42344070-32FE815C-FC9F-49A1-909B-3EEDFCBD07B2Q52840399-4FB1BC3F-938A-484E-87DC-10B3EB6032D9Q53577198-F6CFD0D4-6981-40ED-8C41-6E0EAE407138
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Conradi-Hünermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects).
description
article científic
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article scientifique
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articol științific
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articolo scientifico
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artigo científico
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artigo científico
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name
Conradi-Hünermann-Happle syndr ...... er with neurological defects).
@en
Conradi-Hünermann-Happle syndrome in males vs. MEND syndrome
@nl
type
label
Conradi-Hünermann-Happle syndr ...... er with neurological defects).
@en
Conradi-Hünermann-Happle syndrome in males vs. MEND syndrome
@nl
prefLabel
Conradi-Hünermann-Happle syndr ...... er with neurological defects).
@en
Conradi-Hünermann-Happle syndrome in males vs. MEND syndrome
@nl
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P2860
P1476
Conradi-Hünermann-Happle syndr ...... er with neurological defects).
@en
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A W Arnold
L Bruckner-Tuderman
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10.1111/J.1365-2133.2012.10808.X
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P577
2012-03-27T00:00:00Z