EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome

BMC Medical Genetics

Volumn 16, Issue 1, 2015, Pages

  Li, Chuan ^a   Chen, Rongyu ^a   Fan, Xin ^a   Luo, Jingsi ^a   Qian, Jiale ^a   Wang, Jin ^a   Xie, Bobo ^a   Shen, Yiping ^a,b,c   Chen, Shaoke ^a  

^a Guangxi Matemal and Child Health Hospital   (China)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c Claritas Genomics ^*  (United States)

Author keywords

2q35 q36.2; Chromosomal microarray; EPHA4; PAX3; Short stature; Waardenburg syndrome

Indexed keywords

DNA; GROWTH HORMONE; RECOMBINANT GROWTH HORMONE; SOMATOMEDIN C; EPHRIN RECEPTOR A4; HUMAN GROWTH HORMONE;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 2Q35 Q36.2 DELETION; CHROMOSOME DELETION; DISEASE SEVERITY; DRUG EFFICACY; EAR MALFORMATION; EPHA4 GENE; FACIES; GENE; HAPLOINSUFFICIENCY; HETEROTOPIA; HORMONE SUBSTITUTION; HUMAN; HYPOPLASIA; MALE; MICROGNATHIA; NOSE MALFORMATION; PAX3 GENE; PRESCHOOL CHILD; SHORT STATURE; TREATMENT RESPONSE; UNSPECIFIED SIDE EFFECT; UPWARD PALPEBRAL SLANT; WAARDENBURG SYNDROME; ANIMAL; BODY HEIGHT; CHROMOSOME 2; DRUG EFFECTS; GENETICS; MOUSE; PATHOPHYSIOLOGY;

ANIMALS; BODY HEIGHT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 2; HAPLOINSUFFICIENCY; HUMAN GROWTH HORMONE; HUMANS; MALE; MICE; RECEPTOR, EPHA4; WAARDENBURG SYNDROME;

EID: 84927780616     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/s12881-015-0165-2     Document Type: Article

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