European journal of medical genetics, 2016-04, Vol.59 (4), p.198-203
2016
Volltextzugriff (PDF)
Details
- Autor(en) / Beteiligte
- Titel
- Genetics of Human Isolated Acromesomelic Dysplasia
- Ist Teil von
- European journal of medical genetics, 2016-04, Vol.59 (4), p.198-203
- Ort / Verlag
- Netherlands: Elsevier Masson SAS
- Erscheinungsjahr
- 2016
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- Abstract Acromesomelic dysplasia is a type of skeletal malformation affecting distal and middle segments of the extremities. It occurs in both isolated (non-syndromic) and syndromic forms. In later case, it shows association with cardiac, respiratory, neurological and genital abnormalities. Acromesomelic dysplasia segregates in autosomal recessive mode of inheritance. Mutations in three genes ( GDF5 , NPR2, BMPR1B ) have been reported to cause different forms of acromesomelic dysplasia. In the present review we have discussed clinical spectrum, genetics and signalopathies of isolated acromesomelic dysplasias.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1769-7212eISSN: 1878-0849DOI: 10.1016/j.ejmg.2016.02.011Titel-ID: cdi_proquest_miscellaneous_1775171282
- Format
- –
- Schlagworte
- Acromesomelic dysplasia, BMPR1B, Bone Morphogenetic Protein Receptors, Type I - genetics, Clinical spectrum, Consanguinity, Disease causing mutations, Dwarfism - genetics, Dwarfism - physiopathology, GDF5, Growth Differentiation Factor 5 - genetics, Humans, Medical Education, Musculoskeletal Abnormalities - genetics, Musculoskeletal Abnormalities - physiopathology, Mutation, NPR2, Osteochondrodysplasias - genetics, Osteochondrodysplasias - physiopathology, Pedigree, Phenotype, Receptors, Atrial Natriuretic Factor - genetics