Article
Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome.
Blood - 25 Nov 2021
Lee Sangmoon, Shin Chang Hoon, Lee Jawon, Jeong Seong Dong, Hong Che Ry, Kim Jun-Dae, Kim Ah-Ra, Park Boryeong, Son Soo Jin, Kokhan Oleksandr, Yoo Taekyeong, Ko Jae Sung, Sohn Young Bae, Kim Ok-Hwa, Ko Jung Min, Cho Tae-Joon, Wright Nathan T, Seong Je Kyung, Jin Suk-Won, Kang Hyoung Jin, Kim Hyeon Ho, Choi Murim
Abstract excerpt
Shwachman-Diamond syndrome (SDS; OMIM #260400) is caused by variants in SBDS (Shwachman-Bodian-Diamond syndrome gene), which encodes a protein that plays an important role in ribosome assembly. Recent reports suggest that recessive variants in EFL1 are also responsible for SDS. However, the precise genetic mechanism that leads to EFL1-induced SDS remains incompletely understood. Here we present 3 unrelated Korean...
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