Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

Simsek-Kiper, Pelin Ozlem; Taskiran, Ekim; Kosukcu, Can; Arslan, Umut Ece; Cormier-Daire, Valérie; Gonc, Nazli; Ozon, Alev; Alikasifoglu, Ayfer; Kandemir, Nurgun; Utine, Gulen Eda; Alanay, Yasemin; Alikasifoglu, Mehmet; Boduroglu, Koray

Simsek-Kiper, Pelin Ozlem; Taskiran, Ekim; Kosukcu, Can; Arslan, Umut Ece; Cormier-Daire, Valérie; Gonc, Nazli; Ozon, Alev; Alikasifoglu, Ayfer; Kandemir, Nurgun; Utine, Gulen Eda; Alanay, Yasemin; Alikasifoglu, Mehmet; Boduroglu, Koray.

Affiliation

Simsek-Kiper PO; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Taskiran E; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Kosukcu C; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Arslan UE; Department of Bioinformatics, Hacettepe University Institute of Health Sciences, Ankara, Turkey.
Cormier-Daire V; Department of Health Research, Institute of Public Health, Hacettepe University, Ankara, Turkey.
Gonc N; Department of Genetics, INSERM UMR 1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, AP-HP, Hôpital Necker Enfants Malades, Paris, France.
Ozon A; Department of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Alikasifoglu A; Department of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Kandemir N; Department of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Utine GE; Department of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Alanay Y; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Alikasifoglu M; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Boduroglu K; Department of Pediatric Genetics, Acibadem University Faculty of Medicine, Istanbul, Turkey.

Am J Med Genet A ; 179(7): 1157-1172, 2019 07.

Article in En | MEDLINE | ID: mdl-30980518

Subject(s)

Bone Morphogenetic Protein 2/genetics; Cullin Proteins/genetics; Cytoskeletal Proteins/genetics; Dwarfism/genetics; Genetic Association Studies; Muscle Hypotonia/genetics; Mutation; Spine/abnormalities; Adolescent; Base Sequence; Bone Morphogenetic Protein 2/deficiency; Child; Child, Preschool; Chromosomes, Human, Pair 20; Cohort Studies; Cullin Proteins/metabolism; Cytoskeletal Proteins/metabolism; Dwarfism/diagnosis; Dwarfism/metabolism; Dwarfism/pathology; Female; Fetus; Gene Expression; Genotype; Humans; Infant; Infant, Newborn; Male; Muscle Hypotonia/diagnosis; Muscle Hypotonia/metabolism; Muscle Hypotonia/pathology; Phenotype; Spine/metabolism; Spine/pathology; Exome Sequencing

Key words

BMP2; CUL7; OBSL1; 20p13p12.3 deletion; 3M syndrome; genotype-phenotype correlation

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spine / Cytoskeletal Proteins / Cullin Proteins / Dwarfism / Bone Morphogenetic Protein 2 / Genetic Association Studies / Muscle Hypotonia / Mutation Type of study: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2019 Type: Article Affiliation country: Turkey

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