Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature.

Paththinige, Chamara Sampath; Sirisena, Nirmala Dushyanthi; Escande, Fabienne; Manouvrier, Sylvie; Petit, Florence; Dissanayake, Vajira Harshadeva Weerabaddana

Paththinige, Chamara Sampath; Sirisena, Nirmala Dushyanthi; Escande, Fabienne; Manouvrier, Sylvie; Petit, Florence; Dissanayake, Vajira Harshadeva Weerabaddana.

Affiliation

Paththinige CS; Human Genetics Unit, Faculty of Medicine, University of Colombo, Kynsey Road, Colombo, 00800, Sri Lanka. paththinige@yahoo.com.
Sirisena ND; Faculty of Medicine and Allied Sciences, Rajarata University of Sri Lanka, Saliyapura, Anuradhapura, 50008, Sri Lanka. paththinige@yahoo.com.
Escande F; Human Genetics Unit, Faculty of Medicine, University of Colombo, Kynsey Road, Colombo, 00800, Sri Lanka.
Manouvrier S; Laboratoire de Biochimie et Oncologie Moléculaire, CHU Lille, F-59000, Lille, France.
Petit F; Clinique de Génétique Guy Fontaine, CHU Lille, F-59000, Lille, France.
Dissanayake VHW; Clinique de Génétique Guy Fontaine, CHU Lille, F-59000, Lille, France.

BMC Med Genet ; 20(1): 108, 2019 06 14.

Article in En | MEDLINE | ID: mdl-31200655

Subject(s)

Basic Helix-Loop-Helix Transcription Factors/genetics; Gene Duplication; Limb Deformities, Congenital/genetics; Tibia/abnormalities; Chromosome Duplication; Chromosomes, Human, Pair 17/genetics; Comparative Genomic Hybridization; Ectromelia; Female; Foot Deformities, Congenital/genetics; Gene Dosage; Gene Rearrangement/genetics; Genetic Association Studies; Genetic Loci; Genetic Predisposition to Disease; Hand Deformities, Congenital/genetics; Humans; Infant, Newborn; Limb Deformities, Congenital/diagnostic imaging; Limb Deformities, Congenital/physiopathology; Tibia/diagnostic imaging; Tibia/physiopathology

Key words

17p13.3 duplication; BHLHA9; Ectrodactyly; Split hand/foot malformation; Split hand/foot malformation with long bone deficiency

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Tibia / Limb Deformities, Congenital / Gene Duplication / Basic Helix-Loop-Helix Transcription Factors Type of study: Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Newborn Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2019 Type: Article Affiliation country: Sri Lanka

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