Germinal Mosaicism of GATA3 in a family with HDR Syndrome

American Journal of Medical Genetics, Part A

Volumn 149, Issue 4, 2009, Pages 776-778

  Sun, Yue ^a   Xia, Weibo ^a   Xing, Xiaoping ^a   Li, Mei ^a   Wang, Ou ^a   Jiang, Yan ^a   Pei, Yu ^b   Ye, Ping ^c   Liu, Huaicheng ^a   Hu, Yingying ^a   Meng, Xunwu ^a   Zhou, Xueying ^a  

^a PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

^b Second Artillery General Hospital   (China)

^c Dalian Red Cross Blood Center   (China)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; CREATININE; PARATHYROID HORMONE; PHOSPHORUS; TRANSCRIPTION FACTOR GATA 3;

ADULT; CALCIUM BLOOD LEVEL; CASE REPORT; CHILD; CHINESE; CLINICAL FEATURE; CONTROLLED STUDY; CREATININE BLOOD LEVEL; ECHOGRAPHY; ELECTRIC ACTIVITY; ETHNICITY; EVOKED RESPONSE AUDIOMETRY; FAMILY; FEMALE; GENE MUTATION; HUMAN; HYPOPARATHYROIDISM; HYPOPARATHYROIDISM PERCEPTION DEAFNESS RENAL ANOMALY SYNDROME; KIDNEY MALFORMATION; LETTER; MALE; MOSAICISM; PARATHYROID HORMONE BLOOD LEVEL; PERCEPTION DEAFNESS; PHOSPHATE BLOOD LEVEL; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADOLESCENT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD, PRESCHOOL; CHINA; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FEMALE; GATA3 TRANSCRIPTION FACTOR; HAPLOTYPES; HEARING LOSS, SENSORINEURAL; HETEROZYGOTE; HUMANS; HYPOPARATHYROIDISM; KIDNEY; MALE; MOSAICISM; PEDIGREE; SYNDROME;

EID: 63749107779     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32706     Document Type: Letter

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