An Orofaciodigital Syndrome 1 Patient and Her Mother Carry the Same OFD1 Mutation but Have Different X Chromosome Inactivation Patterns

Orofaciodigital syndrome 1 (OFD-1) is a rare, X-linked, dominantly inherited disorder caused by an OFD1 mutation that can cause polycystic kidneys. A 37-year-old woman on hemodialysis therapy was admitted to our hospital for trans-catheter arterial embolization therapy for enlarged polycystic kidney...

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Detalhes bibliográficos
Publicado no:Intern Med
Main Authors: Iijima, Takashi, Hayami, Noriko, Takaichi, Kenmei, Morisada, Naoya, Nozu, Kandai, Iijima, Kazumoto, Sawa, Naoki, Hoshino, Junichi, Ubara, Yoshifumi
Formato: Artigo
Idioma:Inglês
Publicado em: The Japanese Society of Internal Medicine 2019
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6859397/
https://ncbi.nlm.nih.gov/pubmed/31243241
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2169/internalmedicine.2571-18
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