FAM111A mutations result in hypoparathyroidism and impaired skeletal development.

Unger, Sheila; Górna, Maria W; Le Béchec, Antony; Do Vale-Pereira, Sonia; Bedeschi, Maria Francesca; Geiberger, Stefan; Grigelioniene, Giedre; Horemuzova, Eva; Lalatta, Faustina; Lausch, Ekkehart; Magnani, Cinzia; Nampoothiri, Sheela; Nishimura, Gen; Petrella, Duccio; Rojas-Ringeling, Francisca; Utsunomiya, Akari; Zabel, Bernhard; Pradervand, Sylvain; Harshman, Keith; Campos-Xavier, Belinda; Bonafé, Luisa; Superti-Furga, Giulio; Stevenson, Brian; Superti-Furga, Andrea

Unger, Sheila; Górna, Maria W; Le Béchec, Antony; Do Vale-Pereira, Sonia; Bedeschi, Maria Francesca; Geiberger, Stefan; Grigelioniene, Giedre; Horemuzova, Eva; Lalatta, Faustina; Lausch, Ekkehart; Magnani, Cinzia; Nampoothiri, Sheela; Nishimura, Gen; Petrella, Duccio; Rojas-Ringeling, Francisca; Utsunomiya, Akari; Zabel, Bernhard; Pradervand, Sylvain; Harshman, Keith; Campos-Xavier, Belinda; Bonafé, Luisa; Superti-Furga, Giulio; Stevenson, Brian; Superti-Furga, Andrea.

Affiliation

Unger S; Department of Pediatrics, Lausanne University Hospital, University of Lausanne, 1011 Lausanne, Switzerland; Medical Genetics Service, Lausanne University Hospital, University of Lausanne, 1011 Lausanne, Switzerland.

Am J Hum Genet ; 92(6): 990-5, 2013 Jun 06.

Article in En | MEDLINE | ID: mdl-23684011

Subject(s)

Abnormalities, Multiple/genetics; Bone Diseases, Developmental/genetics; Craniofacial Abnormalities/genetics; Dwarfism/genetics; Hyperostosis, Cortical, Congenital/genetics; Hypocalcemia/genetics; Hypoparathyroidism/genetics; Receptors, Virus/genetics; Abnormalities, Multiple/diagnostic imaging; Abnormalities, Multiple/mortality; Abnormalities, Multiple/pathology; Adolescent; Adult; Bone Diseases, Developmental/mortality; Bone Diseases, Developmental/pathology; Child; Craniofacial Abnormalities/mortality; Craniofacial Abnormalities/pathology; Dwarfism/diagnostic imaging; Dwarfism/mortality; Genetic Association Studies; Heterozygote; Humans; Hyperostosis, Cortical, Congenital/diagnostic imaging; Hyperostosis, Cortical, Congenital/mortality; Hypocalcemia/diagnostic imaging; Hypocalcemia/mortality; Hypoparathyroidism/diagnostic imaging; Hypoparathyroidism/mortality; Infant; Infant, Newborn; Male; Mutation, Missense; Parathyroid Hormone/deficiency; Radiography

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Receptors, Virus / Abnormalities, Multiple / Bone Diseases, Developmental / Hyperostosis, Cortical, Congenital / Craniofacial Abnormalities / Dwarfism / Hypocalcemia / Hypoparathyroidism Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Adult / Child / Humans / Infant / Male / Newborn Language: En Journal: Am J Hum Genet Year: 2013 Type: Article Affiliation country: Switzerland

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