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Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation.

A 7 year old girl is described with congenital hypoplastic anaemia (Diamond-Blackfan anaemia, DBA) and an apparently balanced reciprocal translocation, 46,XX,t(X;19)(p21;q13). The girl has associated features including short stature, unilateral kidney hypoplasia, and a branchial cyst. Fluorescent in...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Gustavsson, P, Skeppner, G, Johansson, B, Berg, T, Gordon, L, Kreuger, A, Dahl, N
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: 1997
विषय:
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051068/
https://ncbi.nlm.nih.gov/pubmed/9321770
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