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John Wiley & Sons Inc

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Novel mutations in G protein-coupled receptor gene ( P2RY5 ) in families with autosomal recessive hypotrichosis (LAH3)

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Springer Publishing Company

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Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria

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Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay

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ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous

By Prasov Lev   Masud Tehmina   Khaliq Shagufta   Mehdi S. Qasim   Abid Aiysha   Oliver Edward R.   Silva Eduardo D.   Lewanda Amy   Brodsky Michael C.   Borchert Mark   Kelberman Daniel   Sowden Jane C.   Dattani Mehul T.   Glaser Tom  

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Oxford University Press

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