Identification of 11p14.1-p15.3 deletion probably associated with short stature, relative macrocephaly, and delayed closure of the fontanelles

American Journal of Medical Genetics, Part A

Volumn 173, Issue 1, 2017, Pages 217-220

  Dateki, Sumito ^a   Watanabe, Satoshi ^a,b   Kinoshita, Fumiko ^a   Yoshiura, Koh Ichiro ^b   Moriuchi, Hiroyuki ^a  

^a NAGASAKI UNIVERSITY HOSPITAL   (Japan)

^b NAGASAKI UNIVERSITY GRADUATE SCHOOL OF BIOMEDICAL SCIENCES   (Japan)

Author keywords

11p deletion; macrocephaly; NELL1; short stature

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 11P; CRANIOFACIAL SYNOSTOSIS; DISEASE ASSOCIATION; FEMALE; FONTANEL; GENE DELETION; GENE FUNCTION; GENE OVEREXPRESSION; HAPLOINSUFFICIENCY; HEMIZYGOTE; HUMAN; INTERSTITIAL CHROMOSOME DELETION; MACROCEPHALY; MOUSE; NELL1 GENE; NONHUMAN; PRESCHOOL CHILD; PRIORITY JOURNAL; SHORT STATURE; SKELETON MALFORMATION; SKULL MALFORMATION; VERTEBRA MALFORMATION; CHROMOSOME 11; CHROMOSOME 15; CHROMOSOME BANDING PATTERN; CHROMOSOME DELETION; DEVELOPMENTAL DISABILITIES; DNA MICROARRAY; DWARFISM; GENETIC ASSOCIATION STUDY; GENETICS; MEGALENCEPHALY; PATHOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; SKULL; SPIRAL COMPUTER ASSISTED TOMOGRAPHY;

NELL1 PROTEIN, HUMAN; NERVE PROTEIN;

CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 15; DEVELOPMENTAL DISABILITIES; DWARFISM; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; MEGALENCEPHALY; NERVE TISSUE PROTEINS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; SKULL; TOMOGRAPHY, SPIRAL COMPUTED;

EID: 84994311330     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37978     Document Type: Article

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