A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb

European Journal of Medical Genetics

Volumn 52, Issue 2-3, 2009, Pages 131-133

  Pollazzon, M ^a   Grosso, S ^a   Papa, F T ^a   Katzaki, E ^a   Marozza, A ^a   Mencarelli, M A ^a   Uliana, V ^a   Balestri, P ^a   Mari, F ^a   Renieri, A ^a  

^a UNIVERSITY OF SIENA   (Italy)

Author keywords

3q Deletion; Bifid thumb; CCDC50; FGF12; Mental retardation; Microcephaly; OPA1; OSTN; p63; PAK2 genes

Indexed keywords

AGGRESSION; APGAR SCORE; ARTICLE; AUTOSOMAL DOMINANT OPTIC ATROPHY; BONE MALFORMATION; CASE REPORT; CCDC50 GENE; CESAREAN SECTION; CHILD; CHROMOSOME 3Q; CHROMOSOME DELETION; CLINICAL FEATURE; CLINODACTYLY; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FEMALE; FOLLOW UP; GENE; GROWTH DISORDER; GROWTH RETARDATION; HEARING IMPAIRMENT; HUMAN; HYPERACTIVITY; JAUNDICE; MENTAL DEFICIENCY; MICROCEPHALY; MUSCLE HYPERTONIA; OLIGOHYDRAMNIOS; OPA1 GENE; PATENT DUCTUS ARTERIOSUS; PES TALUS VALGUS; PHENOTYPE; PLASTIC SURGERY; PRESCHOOL CHILD; PSYCHOMOTOR DISORDER; PSYCHOMOTOR RETARDATION; SCOLIOSIS; SPEECH DISORDER; THUMB MALFORMATION; TRICUSPID VALVE DISEASE; TRICUSPID VALVE DYSPLASIA;

CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 3; FEMALE; GROWTH DISORDERS; HUMANS; PSYCHOMOTOR DISORDERS; THUMB; TRICUSPID VALVE;

EID: 67349253075     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2009.03.009     Document Type: Article

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