Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma-Reference-Cited by-同舟云学术

Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma

Published:2017-06 Issue:6 Volume:100 Page:978-984
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Boyden Lynn M.,Vincent Nicholas G.,Zhou Jing,Hu Ronghua,Craiglow Brittany G.,Bayliss Susan J.,Rosman Ilana S.,Lucky Anne W.,Diaz Luis A.,Goldsmith Lowell A.,Paller Amy S.,Lifton Richard P.,Baserga Susan J.,Choate Keith A.

Funder

Doris Duke Charitable Foundation

Foundation for Ichthyosis and Related Skin Types

National Institutes of Health

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference29 articles.

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2. Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis;Macari;Am. J. Hum. Genet.,2000

3. Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia;Boyden;J. Invest. Dermatol.,2015

4. A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel’s syndrome;Maestrini;Nat. Genet.,1996

5. Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome;Boyden;Hum. Mol. Genet.,2016

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