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Dyssegmental dysplasia Rolland-Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared

Paniz Farshadyeganeh1, Takahiro Yamada2, Hirofumi Ohashi3

  • 1Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan.

Journal of Human Genetics
|February 29, 2024
PubMed

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