Dermatologic Clues to Inherited Disease  

Oleh:

Sidbury, Robert ; Paller, Amy S.

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Pediatric Clinics of North America vol. 47 no. 04 (Aug. 2000), page 825.

Ketersediaan

Perpustakaan FK Nomor Panggil: P13.K.2000.04 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

Genetic disorders may affect any cutaneous structure, from the defective outer protective layers in the ichthyoses, to errors in the critical basement membrane zone in epidermolysis bullosa, to the disordered dermal integrity in Ehlers—Danlos syndrome. These and other important “genodermatoses are reviewed, with particular attention to cutaneous clues to their diagnosis. The recent identification of the underlying molecular basis of all of these genetic disorders allows prenatal diagnosis based on molecular diagnosis in families with identified gene mutations.

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