An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
Abstract Background Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant disorder caused by defects involving the TRPS1 gene. It exhibits distinctive craniofacial, ectodermal and skeletal abnormalities, such as sparse hair, bulbous nasal tip and short deformed fingers, with extremely v...
Sábháilte in:
Príomhchruthaitheoirí: | , , , , , |
---|---|
Formáid: | LEABHAR |
Foilsithe / Cruthaithe: |
BMC,
2018-11-01T00:00:00Z.
|
Ábhair: | |
Rochtain ar líne: | Connect to this object online. |
Clibeanna: |
Cuir clib leis
Níl clibeanna ann, Bí ar an gcéad duine le clib a chur leis an taifead seo!
|
Ar líne
Connect to this object online.3rd Floor Main Library
Gairmuimhir: |
A1234.567 |
---|---|
Cóip 1 | Ar fáil |