Search Results - "Birger van der Hagen, C"
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Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome
Published in Journal of medical genetics (01-07-1994)“…Rothmund-Thomson syndrome is a rare autosomal recessive syndrome characterised by poikiloderma of the face and extremities, alopecia, short stature, and…”
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Journal Article -
2
Unilateral cleft lip in a boy with Angelman syndrome
Published in Journal of craniofacial genetics and developmental biology (01-04-1996)“…We report on a mentally retarded boy with epileptic seizures, microcephaly, ataxia, and developmental delay. His clinical features were consistent with…”
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Journal Article