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Expanding the phenotype of alveolar capillary dysplasia (ACD)

✍ Scribed by Partha Sen; Nivedita Thakur; David W. Stockton; Claire Langston; Bassem A. Bejjani


Book ID
116682904
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
275 KB
Volume
145
Category
Article
ISSN
1097-6833

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Expanded phenotype of cranioectodermal d
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Cranioectodermal dysplasia (CED) is an autosomal recessive condition characterized by defects of ectoderm-derived structures and characteristic bone anomalies. We report on a 27-month-old Caucasian girl with CED, pre- and postnatal growth retardation, microcephaly, hypoplasia of the posterior corpus