A Chinese patient with KBG syndrome and a 9q31.2-33.1 microdeletion

European Journal of Medical Genetics

Volumn 56, Issue 5, 2013, Pages 245-250

  Xu, Mingzhi ^a   Zhou, Huali ^a   Yong, Jing ^b   Cong, Peikuan ^b   Li, Chengjiang ^a   Yu, Yunsong ^c   Qi, Ming ^b,d  

^a ZHEJIANG UNIVERSITY   (China)

^b ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

^c ZHEJIANG UNIVERSITY   (China)

^d UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

Author keywords

ANKRD11; Genotype phenotype correlation; KBG syndrome; Microdeletion of 9q31.2 q33.1

Indexed keywords

ADOLESCENT; ADULT; ANAMNESIS; ANKRD11 GENE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHILD; CHINESE; CLINICAL FEATURE; GENE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; INFANT; KBG SYNDROME; MALE; MOLECULAR GENETICS; NEWBORN; PRESCHOOL CHILD; SCHOOL CHILD;

ABNORMALITIES, MULTIPLE; ASIAN CONTINENTAL ANCESTRY GROUP; BONE DISEASES, DEVELOPMENTAL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 9; FACIES; HAPLOINSUFFICIENCY; HUMANS; INTELLECTUAL DISABILITY; MALE; MUTATION, MISSENSE; PHENOTYPE; REPRESSOR PROTEINS; TOOTH ABNORMALITIES; YOUNG ADULT;

EID: 84878659762     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2013.01.007     Document Type: Article

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