Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 2, 2012, Pages 391-399

  Muller, Eric A ^a   Aradhya, Swaroop ^b   Atkin, Joan F ^c   Carmany, Erin P ^d   Elliott, Alison M ^e   Chudley, Albert E ^e   Clark, Robin D ^f   Everman, David B ^g   Garner, Shannon ^c   Hall, Bryan D ^h   Herman, Gail E ^c   Kivuva, Emma ⁱ   Ramanathan, Subhadra ^f   Stevenson, David A ^j   Stockton, David W ^d   Hudgins, Louanne ^a  

^a STANFORD UNIVERSITY   (United States)

^b GENEDX   (United States)

^c NATIONWIDE CHILDREN S HOSPITAL   (United States)

^d WAYNE STATE UNIVERSITY   (United States)

^e UNIVERSITY OF MANITOBA   (Canada)

^f LOMA LINDA UNIVERSITY HEALTH   (United States)

^g GREENWOOD GENETIC CENTER   (United States)

^h UNIVERSITY OF KENTUCKY   (United States)

ⁱ ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

^j UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

more..

Author keywords

9q22; Basal cell carcinoma syndrome; Basal cell nevus syndrome; Chromosomal deletion; Gorlin syndrome; Metopic craniosynostosis; PTCH1

Indexed keywords

PROTEIN PATCHED 1;

ARTICLE; BASAL CELL NEVUS SYNDROME; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DELETION 9Q22.3; CLINICAL ARTICLE; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIOFACIAL SYNOSTOSIS; DEVELOPMENTAL DISORDER; FEMALE; GENE; HAPLOINSUFFICIENCY; HUMAN; HYDROCEPHALUS; INFANT; MACROSOMIA; MALE; NEWBORN; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PTCH1 GENE;

BASAL CELL NEVUS SYNDROME; CARCINOMA, BASAL CELL; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 9; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIOSYNOSTOSES; DEVELOPMENTAL DISABILITIES; FEMALE; FETAL MACROSOMIA; GENETIC ASSOCIATION STUDIES; HAPLOINSUFFICIENCY; HUMANS; HYDROCEPHALUS; INFANT; INFANT, NEWBORN; INTELLECTUAL DISABILITY; MALE; PATHOLOGY, MOLECULAR; RECEPTORS, CELL SURFACE;

EID: 84856228759     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34216     Document Type: Article

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