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Dokumenttyp:
journal article 
Autor(en):
Tadin-Strapps, M; Warburton, D; Baumeister, FA; Fischer, SG; Yonan, J; Gilliam, TC; Christiano, AM 
Titel:
Cloning of the breakpoints of a de novo inversion of chromosome 8, inv (8)(p11.2q23.1) in a patient with Ambras syndrome. 
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 
Print-ISSN:
1424-8581 
TUM Einrichtung:
Kinderklinik und Poliklinik