Darier disease, multiple bone cysts, and aniridia due to double de novo heterozygous mutations in ATP2A2 and PAX6

American Journal of Medical Genetics, Part A

Volumn 149, Issue 8, 2009, Pages 1768-1772

  Castori, Marco ^a   Barboni, Luana ^a   Duncan, Philippa J ^b   Paradisi, Mauro ^c   Laino, Luigi ^a   De Bernardo, Carmelilia ^a   Robinson, David O ^b,d   Grammatico, Paola ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^c LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

^d UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

Author keywords

Darier White disease; Double heterozygosity; Keratosis follicularis; Pleiotropy; SERCA2

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ADENOSINE TRIPHOSPHATASE ATP2A2; TRANSCRIPTION FACTOR PAX6; UNCLASSIFIED DRUG;

ACANTHOLYSIS; ADOLESCENT; ANIRIDIA; APGAR SCORE; ARTICLE; BIRTH WEIGHT; BODY HEIGHT; BODY WEIGHT; BONE CYST; CASE REPORT; CATARACT; CLINICAL EVALUATION; CLINICAL FEATURE; DARIER DISEASE; DIAPHYSIS; DISEASE ASSOCIATION; DISEASE COURSE; DISSECTION; DIVERGENT STRABISMUS; DYSKERATOSIS; ELECTRORETINOGRAM; EVOKED VISUAL RESPONSE; FEMALE; FEMUR FRACTURE; GENE EXPRESSION; GENE MUTATION; HEAD CIRCUMFERENCE; HETEROZYGOSITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; KARYOTYPE; KERATINIZATION; MENTAL DEFICIENCY; METABOLIC PARAMETERS; MICROSCOPY; MOLECULAR GENETICS; MULTIPLE BONE CYST; NUCLEOTIDE SEQUENCE; NYSTAGMUS; OPHTHALMOLOGY; PHENOTYPE; PHYSICAL EXAMINATION; PREVALENCE; PRIORITY JOURNAL; PRURITUS; PSYCHOMOTOR DEVELOPMENT; SINGLE NUCLEOTIDE POLYMORPHISM; SKELETON MALFORMATION; SKIN BIOPSY; ULTRASOUND; VISION; VISUAL ACUITY; X RAY;

ADOLESCENT; ADULT; ANIRIDIA; BONE CYSTS; CHILD; DARIER DISEASE; EYE PROTEINS; FEMALE; HETEROZYGOTE; HOMEODOMAIN PROTEINS; HUMANS; INFANT; MALE; MUTATION; PAIRED BOX TRANSCRIPTION FACTORS; REPRESSOR PROTEINS; SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES; YOUNG ADULT;

EID: 68049088731     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32960     Document Type: Article

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