IFAP syndrome with severe cutaneous, neurologic and skeletal manifestations due to a novel MBTPS2 mutation in a polish patient

European Journal of Dermatology

Volumn 22, Issue 4, 2012, Pages 467-472

  Pietrzak, Aldona ^a   Kanitakis, Jean ^b   Staśkiewicz, Grzegorz ^a   Sobczyńska Tomaszewska, Agnieszka ^c   Dybiec, Ewa ^a   Szumiło, Justyna ^a   Kandzierski, Grzegorz ^a   Wawrzycki, Bartłomiej ^a   Chodorowska, Grazyna ^a  

^a MEDICAL UNIVERSITY OF LUBLIN   (Poland)

^b EDOUARD HERRIOT HOSPITAL   (France)

^c Health Care Center Genomed   (Poland)

Author keywords

Atrichia; Chorea; Ichthyosis follicularis; IFAP; MBTPS2; Photophobia

Indexed keywords

ACANTHOSIS; ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; BRAIN CALCIFICATION; CASE REPORT; CHOREA; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; DNA DETERMINATION; DNA SEQUENCE; EPIDERMIS HYPERPLASIA; EXON; FACE DYSMORPHIA; FAMILY HISTORY; FEMALE; GENE; GENETIC IDENTIFICATION; GENETIC SCREENING; GENODERMATOSIS; HUMAN; HUMAN TISSUE; ICHTHYOSIS FOLLICULARIS ATRICHIA PHOTOPHOBIA SYNDROME; INFLAMMATORY INFILTRATE; MALE; MBTPS2 GENE; MEDICAL HISTORY; MENTAL DEFICIENCY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NAIL DYSTROPHY; NUCLEOTIDE SEQUENCE; POLAND; PSORIASIS VULGARIS; SKELETON MALFORMATION; SKIN BIOPSY;

ADOLESCENT; ALOPECIA; HUMANS; ICHTHYOSIS; MALE; METALLOENDOPEPTIDASES; MUSCULOSKELETAL ABNORMALITIES; MUTATION, MISSENSE; PHENOTYPE; PHOTOPHOBIA; POLAND; SEVERITY OF ILLNESS INDEX; SKIN DISEASES;

EID: 84865357073     PISSN: 11671122     EISSN: 19524013     Source Type: Journal    
DOI: 10.1684/ejd.2012.1772     Document Type: Article

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