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Titel:

Cloning of the breakpoints of a de novo inversion of chromosome 8, inv (8)(p11.2q23.1) in a patient with Ambras syndrome.

Dokumenttyp:
Journal Article
Autor(en):
Tadin-Strapps, M; Warburton, D; Baumeister, FA; Fischer, SG; Yonan, J; Gilliam, TC; Christiano, AM
Abstract:
Ambras syndrome (AMS) is a unique form of universal congenital hypertrichosis. In patients with this syndrome, the whole body is covered with fine long hair, except for areas where normally no hair grows. There is accompanying facial dysmorphism and teeth abnormalities, including retarded first and second dentition and absence of teeth. In 1993, Baumeister et al. reported an isolated case of Ambras syndrome in association with a pericentric inversion of chromosome 8. Subsequently, another patien...     »
Zeitschriftentitel:
Cytogenet Genome Res
Jahr:
2004
Band / Volume:
107
Heft / Issue:
1-2
Seitenangaben Beitrag:
68-76
Sprache:
eng
Volltext / DOI:
doi:10.1159/000079573
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/15305058
Print-ISSN:
1424-8581
TUM Einrichtung:
Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin
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