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Hair-nail ectodermal dysplasia

MedGen UID:
870434
•Concept ID:
C4024880
•
Anatomical Abnormality

Professional guidelines

PubMed

What the future holds for ectodermal dysplasias: future research and treatment directions.
Slavkin HC
Am J Med Genet A 2009 Sep;149A(9):2071-4. doi: 10.1002/ajmg.a.32862. PMID: 19681133

Recent clinical studies

Etiology

Keratin disorders: from gene to therapy.
McLean WH, Moore CB
Hum Mol Genet 2011 Oct 15;20(R2):R189-97. Epub 2011 Sep 2 doi: 10.1093/hmg/ddr379. PMID: 21890491

Therapy

Keratin disorders: from gene to therapy.
McLean WH, Moore CB
Hum Mol Genet 2011 Oct 15;20(R2):R189-97. Epub 2011 Sep 2 doi: 10.1093/hmg/ddr379. PMID: 21890491

Clinical prediction guides

Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation.
Rasool M, Nawaz S, Azhar A, Wajid M, Westermark P, Baig SM, Klar J, Dahl N
Eur J Dermatol 2010 Jul-Aug;20(4):443-6. Epub 2010 Apr 21 doi: 10.1684/ejd.2010.0962. PMID: 20409997

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