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Microphthalmia 9 (PDAC) 

Microphthalmia 9 (PDAC)
Chapter:
Microphthalmia 9 (PDAC)
Author(s):

Julie Plaisancie

and Nicolas Chassaing

DOI:
10.1093/med/9780199934522.003.0221
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date: 24 February 2021

Matthew-Wood, Spear, PDAC or MCOPS9 syndrome (MIM#601186) are alternative names used to refer to combinations of microphthalmia/anophthalmia, malformative cardiac defects, pulmonary dysgenesis, and diaphragmatic hernia. Mutations in STRA6 have been identified in some patients with this malformative association. Recently, the phenotypic spectrum associated with STRA6 mutations has been extended to include isolated microphthalmia. STRA6-related eye disorders are inherited in an autosomal recessive manner. STRA6 encodes a membrane receptor for vitamin A-bearing plasma retinol binding protein and is involved in vitamin A metabolism, a pathway long recognized for its involvement in eye development.

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