Two siblings with a nonsense founder mutation in TMCO1 gene and expanding the genotypic spectrum of cerebro-facio-thoracic dysplasia (CFTD).

ŞENTÜRK L., GÜNEŞ D.

15. Ulusal Tıbbi Genetik Kongresi, Muğla, Turkey, 9 - 13 November 2022, pp.141, (Summary Text)

• Publication Type: Conference Paper / Summary Text
• City: Muğla
• Country: Turkey
• Page Numbers: pp.141
• Istanbul University Affiliated: Yes