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Molecular characterisation of chromosome 4p deletions resulting in Wolf-Hirschhorn syndrome.

We present three patients with Wolf-Hirschhorn syndrome with small cytogenetic deletions of 4p16. One case is a de novo translocation and two cases represent de novo deletions. Using molecular techniques we determined the extent of these deletions and attempted to ascertain parental origin. Case 1 h...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Estabrooks, L L, Lamb, A N, Aylsworth, A S, Callanan, N P, Rao, K W
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1994
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1049668/
https://ncbi.nlm.nih.gov/pubmed/8182713
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