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Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis
Download from onlinelibrary.wiley.comAutosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis.
UploadHeterozygous deletion of the LRFN2 gene is associated with working memory deficits
Download from www.nature.comA de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability
Download from www.nature.comCompound heterozygousPKHD1variants cause a wide spectrum of ductal plate malformations
Upload6q16.3q23.3 duplication associated with Prader-Willi-like syndrome
Download from dx.doi.orgClinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome
UploadDelineation of the 3p14.1p13 Microdeletion Associated With Syndromic Distal Limb Contractures
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