A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome in a Chinese family

British Journal of Dermatology

Volumn 163, Issue 4, 2010, Pages 886-889

  Ding, Y G ^a   Wang, J Y ^a   Qiao, J J ^a   Mao, X H ^a   Cai, S Q ^a  

^a ZHEJIANG UNIVERSITY   (China)

Author keywords

IFAP (ichthyosis follicularis, alopecia and photophobia) syndrome; MBTPS2; mutation

Indexed keywords

GENOMIC DNA;

ADULT; ALOPECIA; CASE REPORT; CHILD; CHINESE; CLINICAL FEATURE; CONTROLLED STUDY; DNA SEQUENCE; FAMILY; FEMALE; GENE MUTATION; GENETIC DISORDER; GENODERMATOSIS; HUMAN; HUMAN TISSUE; ICHTHYOSIS; LETTER; MALE; PHENOTYPE; PHOTOPHOBIA; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ADULT; ALOPECIA; CHILD; FEMALE; HUMANS; ICHTHYOSIS; MALE; METALLOENDOPEPTIDASES; PEDIGREE; PHOTOPHOBIA; SYNDROME;

EID: 77957062301     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2010.09890.x     Document Type: Letter

References (9)

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