A case of Short Rib Thoracic Dysplasia with a <i>novel</i> homozygous <i>IFT140</i> variant in the setting of complete uniparental isodisomy (UPiD) of chromosome 16

ÖZDEN S. T., Akbas S., KALAYCI T., ASLANGER A. D., KARAMAN B., UYGUNER Z. O., ...More

58th Conference of the European-Society-of-Human-Genetics (ESHG), Milan, Italy, 24 - 27 May 2025, vol.33, pp.357, (Summary Text)

• Publication Type: Conference Paper / Summary Text
• Volume: 33
• City: Milan
• Country: Italy
• Page Numbers: pp.357
• Istanbul University Affiliated: Yes