Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia

American Journal of Medical Genetics, Part A

Volumn 152, Issue 1, 2010, Pages 175-180

  Isidor, Bertrand ^a   Pichon, Olivier ^a   Baron, Sabine ^a   David, Albert ^a   Le Caignec, Cédric ^a,b,c,d  

^a NANTES UNIVERSITY HOSPITAL   (France)

^b L INSTITUT DU THORAX   (France)

^c CNRS   (France)

^d UNIVERSITÉ DE NANTES   (France)

Author keywords

Array CGH; CUL4B; Deletion; X linked mental retardation

Indexed keywords

CUL 4B PROTEIN; CULLIN; RING FINGER PROTEIN; UBIQUITIN PROTEIN LIGASE; UNCLASSIFIED DRUG; CUL4B PROTEIN; OMEPRAZOLE; RECOMBINANT GROWTH HORMONE; UBIQUITIN PROTEIN LIGASE E3;

AORTA ANOMALY; AORTA VALVE DISEASE; AORTA VALVE DYSPLASIA; ARTICLE; ATAXIA; CASE REPORT; CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; DELAYED PUBERTY; DNA MICROARRAY; FACE MALFORMATION; FOOT MALFORMATION; GENE CLUSTER; GENE DELETION; GENETIC ASSOCIATION; HUMAN; HYPOGONADISM; KARYOTYPING; MACROCEPHALY; MALE; MENTAL DEFICIENCY; PES CAVUS; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; SCHEUERMANN DISEASE; SHORT STATURE; VERTEBRA MALFORMATION; ADOLESCENT; ALLELIC IMBALANCE; ANAMNESIS; BONE RADIOGRAPHY; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; GASTROESOPHAGEAL REFLUX; GENE IDENTIFICATION; MENTAL RETARDATION MALFORMATION SYNDROME; MOLECULAR PATHOLOGY;

ATAXIA; BODY HEIGHT; CHILD, PRESCHOOL; CULLIN PROTEINS; FACIES; GENE DELETION; HUMANS; HYPOGONADISM; INFANT, NEWBORN; MALE; MENTAL RETARDATION;

EID: 75149125167     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33152     Document Type: Article

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