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Recognizable phenotypes associated with intracranial calcification

✍ Scribed by LIVINGSTON, JOHN H; STIVAROS, STAVROS; VAN DER KNAAP, MARJO S; CROW, YANICK J

Book ID
118222189
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
824 KB
Volume
55
Category
Article
ISSN
0012-1622

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Five boys and two girls from a large consanguineous British Muslim family of Pakistani origin are described. All presented from infancy to early childhood with progressive moderate to severe developmental delay, postnatal microcephaly, spastic quadriplegia, refractory seizures, and visual handicap.