A novel homozygous missense mutation in SLURP1 causing Mal de Meleda with an atypical phenotype

Robert Gruber; Hans C Hennies; Nikolaus Romani; Matthias Schmuth

doi:10.1001/archdermatol.2011.138

A novel homozygous missense mutation in SLURP1 causing Mal de Meleda with an atypical phenotype

Robert Gruber, Hans C Hennies, Nikolaus Romani, Matthias Schmuth

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	748-50
Number of pages	3
Journal	JAMA Dermatology
Volume	147
Issue number	6
DOIs	https://doi.org/10.1001/archdermatol.2011.138
Publication status	Published - Jun 2011
Externally published	Yes

Access to Document

10.1001/archdermatol.2011.138

Cite this

@article{9ed04baa42124288b8dc0fe47a1dde19,

title = "A novel homozygous missense mutation in SLURP1 causing Mal de Meleda with an atypical phenotype",

keywords = "Acitretin, Adult, Anti-Infective Agents, Antigens, Ly, Biopsy, Homozygote, Humans, Keratoderma, Palmoplantar, Keratolytic Agents, Male, Mutation, Missense, Phenotype, Urokinase-Type Plasminogen Activator, Case Reports, Letter, Research Support, Non-U.S. Gov't",

author = "Robert Gruber and Hennies, {Hans C} and Nikolaus Romani and Matthias Schmuth",

year = "2011",

month = jun,

doi = "10.1001/archdermatol.2011.138",

language = "English",

volume = "147",

pages = "748--50",

journal = "JAMA Dermatology",

issn = "2168-6068",

publisher = "American Medical Association",

number = "6",

}

TY - JOUR

T1 - A novel homozygous missense mutation in SLURP1 causing Mal de Meleda with an atypical phenotype

AU - Gruber, Robert

AU - Hennies, Hans C

AU - Romani, Nikolaus

AU - Schmuth, Matthias

PY - 2011/6

Y1 - 2011/6

KW - Acitretin

KW - Adult

KW - Anti-Infective Agents

KW - Antigens, Ly

KW - Biopsy

KW - Homozygote

KW - Humans

KW - Keratoderma, Palmoplantar

KW - Keratolytic Agents

KW - Male

KW - Mutation, Missense

KW - Phenotype

KW - Urokinase-Type Plasminogen Activator

KW - Case Reports

KW - Letter

KW - Research Support, Non-U.S. Gov't

U2 - 10.1001/archdermatol.2011.138

DO - 10.1001/archdermatol.2011.138

M3 - Article

C2 - 21690549

VL - 147

SP - 748

EP - 750

JO - JAMA Dermatology

JF - JAMA Dermatology

SN - 2168-6068

IS - 6

ER -