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Proteins trafficking through the secretory pathway must first exit the endoplasmic reticulum (ER) through membrane vesicles created and regulated by the COPII coat protein complex. Cranio-lenticulo-sutural dysplasia (CLSD) was recently shown to be caused by a missense mutation in SEC23A, a gene encoding one of two paralogous COPII coat proteins. We now(More)
In this paper, we report a new case of congenital duplication of the palm syndrome (also known as limb/pelvis-hypoplasia/aplasia syndrome) and review previously reported cases and Wnt 7a gene mutations associated with that syndrome. Finally, we review the embryonic molecular events of limb development to explain the clinical features of the syndrome and to(More)
Congenital duplication of the palm is a rare syndrome with the following features: the dorsal aspects of both hands have thick palmar skin with no hair or nails; bilateral ulnar ray deficiency; short hypoplastic upper limbs; and severe lower limb abnormalities. In this paper, we report a new case of congenital duplication of the palm syndrome, provide its(More)
We report our results of 1000 diagnostic WES cases based on 2819 sequenced samples from 54 countries with a wide phenotypic spectrum. Clinical information given by the requesting physicians was translated to HPO terms. WES processes were performed according to standardized settings. We identified the underlying pathogenic or likely pathogenic variants in(More)
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