A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia.
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| Title: | A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia. |
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| Authors: | Saal HM; Division of Human Genetics., Prows CA; Division of Human Genetics, Division of Patient Services., Guerreiro I; Division of Human Genetics., Donlin M; Division of Human Genetics., Knudson L; Division of Human Genetics., Sund KL; Division of Human Genetics., Chang CF; Division of Developmental Biology and Division of Plastic Surgery, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, MLC 7016, Cincinnati, OH 45229, USA., Brugmann SA; Division of Developmental Biology and Division of Plastic Surgery, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, MLC 7016, Cincinnati, OH 45229, USA., Stottmann RW; Division of Human Genetics, Division of Developmental Biology and rolf.stottmann@cchmc.org. |
| Source: | Human molecular genetics [Hum Mol Genet] 2015 Jun 15; Vol. 24 (12), pp. 3399-409. Date of Electronic Publication: 2015 Mar 10. |
| Publication Type: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| ISSN: | 1460-2083 |
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| DOI: | 10.1093/hmg/ddv088 |
