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Further delineation of genotype–phenotype correlation in homozygous 2p21 deletion syndromes: First description of patients without cystinuria |
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| Authors: | Deborah Bartholdi Reza Asadollahi Beatrice Oneda Thomas Schmitt‐Mechelke Paolo Tonella Alessandra Baumer Anita Rauch |
| Affiliation: | 1. Institute of Medical Genetics, University of Zurich, , Schwerzenbach, Switzerland;2. Pediatric Neurology, Children's Hospital, , Lucerne, Switzerland;3. Pediatric Endocrinology, Children's Hospital, Lucerne, , Switzerland |
| Abstract: | |
| Keywords: | hypotonia‐cystinuria syndrome homozygous gene deletion syndrome deletion 2p21 neonatal hypotonia |