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A new lethal syndrome of exomphalos, short limbs, and macrogonadism
Download from www.ncbi.nlm.nih.govA gene for Meckel syndrome maps to chromosome 11q13.
Download from www.ncbi.nlm.nih.govSHOX mutations in dyschondrosteosis (Leri-Weill Syndrome)
Download from www.nature.comCHARGE syndrome: Report of 47 cases and review
UploadPrenatal diagnosis in CDG1 families: beware of heterogeneity
Download from www.nature.comFeatures of DiGeorge syndrome and CHARGE association in five patients.
Download from www.ncbi.nlm.nih.govGenetic heterogeneity of Meckel syndrome.
Download from www.ncbi.nlm.nih.govA Novel Phenotypic Pattern in X-Linked Inheritance: Craniofrontonasal Syndrome Maps to Xp22
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