Gorlin-chaudhry-moss syndrome revisited: Expanding the phenotype

American Journal of Medical Genetics, Part A

Volumn 161, Issue 7, 2013, Pages 1737-1742

  Rosti, Rasim O ^a   Karaer, Kadri ^a   Karaman, Birsen ^b   Torun, Deniz ^a   Guran, Sefik ^a   Bahce, Muhterem ^a  

^a GULHANE SCHOOL OF MEDICINE   (Turkey)

^b ISTANBUL UNIVERSITY   (Turkey)

Author keywords

Bifid nose; Craniofacial dysostosis; Extremities; Gorlin Chaudhry Moss syndrome; Lower; Syndrome delineation; Upper

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; COLOBOMA; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; CRANIOFACIAL SYNOSTOSIS; CROUZON SYNDROME; EYE MALFORMATION; FEMALE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENITAL MALFORMATION; GORLIN CHAUDHRY MOSS SYNDROME; HAND RADIOGRAPHY; HETEROZYGOSITY; HUMAN; HYPERMETROPIA; HYPERTRICHOSIS; INFANT; LARYNGOMALACIA; MALE; PALPEBRAL FISSURE; PHENOTYPE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; TOOTH MALFORMATION;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 12; CRANIOFACIAL ABNORMALITIES; DNA COPY NUMBER VARIATIONS; DUCTUS ARTERIOSUS, PATENT; FEMALE; HAND DEFORMITIES, CONGENITAL; HUMANS; HYPERTRICHOSIS; INFANT; LARYNX; NOSE; PHENOTYPE; TOES;

BRYOPHYTA;

EID: 84879462999     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35954     Document Type: Article

References (5)

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