Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI.
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ABSTRACT:
SUBMITTER: Chinen Y
PROVIDER: S-EPMC8971417 | biostudies-literature | 2022 Mar
REPOSITORIES: biostudies-literature
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Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI.
Chinen Yasutsugu Y Nakamura Sadao S Yanagi Kumiko K Kaneshi Takuya T Goya Hideki H Yoshida Tomohide T Satou Kazuhito K Kaname Tadashi T Naritomi Kenji K Nakanishi Koichi K
Human genome variation 20220331 1
We describe the case of a male patient with orofaciodigital (OFD) syndrome type XVI with a homozygous variant of TMEM107 (p.Phe106del) and the additional findings of tibial dysplasia, which is a pivotal finding of OFD syndrome type IV. His family history included two fetuses with anencephaly with or without cleft lip/palate and polydactyly with no genetic information. Careful attention should be given to the interpretation of this rare pattern. ...[more]
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