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A new autosomal recessive anomaly mimicking Fanconi's anaemia phenotype.

A family in which three siblings born to related parents all manifested clinical abnormalities characteristic of Fanconi's anaemia (microcephaly, short stature, slow growth, beak nose, micrognathia, skin dyspigmentation and forearm and thumb dysplasia in 2/3) is reported. All five family member...

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Autors principals: Milner, R D, Khallouf, K A, Gibson, R, Hajianpour, A, Mathew, C G
Format: Artigo
Idioma:Inglês
Publicat: 1993
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1029193/
https://ncbi.nlm.nih.gov/pubmed/8434992
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