A novel mutation in MBTPS2 causes a broad phenotypic spectrum of ichthyosis follicularis, atrichia, and photophobia syndrome in a large Chinese family

Journal of the American Academy of Dermatology

Volumn 64, Issue 4, 2011, Pages 716-722

  Tang, Li ^a   Liang, Jianying ^a   Wang, Wenzhang ^b   Yu, Long ^b   Yao, Zhirong ^a  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b FUDAN UNIVERSITY   (China)

Author keywords

causative gene; IFAP syndrome; MBTPS2; missense; phenotype; X linked

Indexed keywords

ALOPECIA; ARTICLE; CHILD; CHINESE; CLINICAL ARTICLE; CONGENITAL SKIN DISEASE; CONTROLLED STUDY; EXON; FAMILY; FEMALE; GENE; GENE MUTATION; HUMAN; HYPERKERATOSIS; HYPOTRICHOSIS; ICHTHYOSIS FOLLICULARIS ATRICHIA AND PHOTOPHOBIA SYNDROME; JOINT HYPERMOBILITY; MALE; MBTPS2 GENE; MISSENSE MUTATION; NAIL DYSTROPHY; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; X CHROMOSOME LINKED DISORDER;

ALOPECIA; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHROMOSOMES, HUMAN, X; FAMILY HEALTH; FEMALE; HUMANS; ICHTHYOSIS; METALLOENDOPEPTIDASES; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PHOTOPHOBIA;

EID: 79952818832     PISSN: 01909622     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaad.2010.02.045     Document Type: Article

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