Two brothers with Goldberg-Shprintzen syndrome

Clinical Dysmorphology

Volumn 15, Issue 3, 2006, Pages 165-169

  Murphy, Helen R ^a   Carver, Melanie J ^a   Brooks, Alice S ^b   Kenny, Simon E ^c   Ellis, Ian H ^a  

^a ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

^b NORTHERN GENERAL HOSPITAL   (United Kingdom)

^c ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Arched eyebrows; Autosomal recessive; Goldberg Shprintzen; Hirschsprung disease; Hypertelorism; KIAA1279 gene; Mental retardation; Microcephaly; Neuronal migration defect; Toe anomalies

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CAMPTODACTYLY; CASE REPORT; CHILD; CLINICAL FEATURE; CLINODACTYLY; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; FOOT MALFORMATION; GOLDBERG SHPRINTZEN SYNDROME; HIRSCHSPRUNG DISEASE; HUMAN; MALE; MICROCEPHALY; PRIORITY JOURNAL; CLEFT PALATE; CONGENITAL MALFORMATION; CRANIOFACIAL MALFORMATION; EYEBROW; FINGER; FRAMESHIFT MUTATION; GENETICS; KARYOTYPING; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; PLAGIOCEPHALY; PTOSIS; SIBLING; SYNDROME; TOE;

KIAA1279 PROTEIN, HUMAN; NERVE PROTEIN;

ABNORMALITIES, MULTIPLE; BLEPHAROPTOSIS; CHILD; CLEFT PALATE; CRANIOFACIAL ABNORMALITIES; DEVELOPMENTAL DISABILITIES; EYEBROWS; FINGERS; FOOT DEFORMITIES; FRAMESHIFT MUTATION; HIRSCHSPRUNG DISEASE; HUMANS; KARYOTYPING; MALE; NERVE TISSUE PROTEINS; PLAGIOCEPHALY, NONSYNOSTOTIC; SIBLINGS; SYNDROME; TOES;

EID: 33748144688     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.mcd.0000204991.84861.c9     Document Type: Article

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