Case report of two brothers with a novel homozygous mutation in ALOX12B leads to autosomal recessive congenital ichthyosis: Which type and which subtype? Two siblings with a novel homozygous mutation in ALOX12B

• Yazar: Evren Gumus (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Wolters Kluwer Medknow Publications, 2019-01-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Ichthyosis is a heterogeneous group of rare genetic skin disorders characterized by furfuraceous and dry skin. The classification of ichthyosis has always been a challenging process as genodermatoses. Here, we report a novel homozygous mutation in ALOX12B in two siblings with autosomal recessive con...