Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia

American Journal of Medical Genetics, Part A

Volumn 161, Issue 6, 2013, Pages 1432-1435

  Giampietro, Philip F ^a   Baker, Mei W ^a,b   Basehore, Monica J ^c   Jones, Julie R ^c   Seroogy, Christine M ^a  

^a UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^b WISCONSIN STATE LABORATORY OF HYGIENE   (United States)

^c GREENWOOD GENETIC CENTER   (United States)

Author keywords

Cleft palate; Ectodermal dysplasia; Ectrodactyly; Lymphopenia; T cell; Thymus; TP63

Indexed keywords

ANTIBIOTIC AGENT; IMMUNOGLOBULIN; LIVE VACCINE; PROTEIN P63; TP63 PROTEIN, HUMAN; TRANSCRIPTION FACTOR; TUMOR SUPPRESSOR PROTEIN;

ARTICLE; CASE REPORT; CHILD; CLEFT PALATE; ECTRODACTYLY; EEC SYNDROME; EXTERNAL EAR MALFORMATION; EYE DISCHARGE; FETUS ECHOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DELETION; GENE DOSAGE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC COUNSELING; HAIR DISEASE; HUMAN; HYDRONEPHROSIS; IYD GENE; LYMPHOCYTE COUNT; LYMPHOCYTOPENIA; MALE; MYRINGOTOMY; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; ORBIT CELLULITIS; OTITIS MEDIA; PPP1R4C GENE; PRIORITY JOURNAL; PSEUDOMONAS AERUGINOSA; SEVERE COMBINED IMMUNODEFICIENCY; TP63 GENE; TYMPANOSTOMY TUBE; VACCINATION; CLEFT LIP; ECTODERMAL DYSPLASIA; EXON; GENETICS; GENOTYPE; LIMB DEFORMITIES, CONGENITAL; LYMPHOPENIA; PATHOLOGY; PHENOTYPE; T LYMPHOCYTE;

BASE SEQUENCE; CHILD; CLEFT LIP; CLEFT PALATE; ECTODERMAL DYSPLASIA; EXONS; GENOTYPE; HUMANS; HYDRONEPHROSIS; IN SITU HYBRIDIZATION, FLUORESCENCE; LIMB DEFORMITIES, CONGENITAL; LYMPHOPENIA; MALE; PHENOTYPE; SEQUENCE DELETION; T-LYMPHOCYTES; TRANSCRIPTION FACTORS; TUMOR SUPPRESSOR PROTEINS;

EID: 84878254358     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35885     Document Type: Article

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