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Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms

✍ Scribed by K. Mizugishi; Keiko Yamanaka; Katsuko Kuwajima; Ikuko Kondo


Publisher
Nature Publishing Group
Year
1998
Tongue
English
Weight
202 KB
Volume
43
Category
Article
ISSN
1435-232X

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## Abstract Rieger syndrome (RS; OMIM 180500) is a rare autosomal dominant disorder of morphogenesis, with ocular and systemic abnormalities and variability in phenotypic expression. Some patients with RS presented with a deletion of the band 4q25 to which the homeobox gene __PIT X2__ (former __RIE