A case of thanatophoric dysplasia type I with an R248C mutation in the gene
Thanatophoric dysplasia (TD) is a short-limb neonatal dwarfism syndrome that is usually lethal in the perinatal period. It is characterized by shortening of the limbs, severely small thorax, large head with a prominent forehead, macrocephaly, curved femur, and flattened vertebral bodies. These malfo...
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| Príomhchruthaitheoirí: | , , , |
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| Formáid: | LEABHAR |
| Foilsithe / Cruthaithe: |
Korean Pediatric Society,
2010-12-01T00:00:00Z.
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| 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!
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Ar líne
Connect to this object online.3rd Floor Main Library
| Gairmuimhir: |
A1234.567 |
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| Cóip 1 | Ar fáil |