Clinical genetics
Homozygous LZTR1 Variant Lacking the Second BTB Domain Associated With Bone Marrow Failure and Multiple Congenital Anomalies Distinct From Those of Noonan Syndrome.
Yukiko Kuroda, Tomoko Yokosuka, Koki Nagai, Yasuhiro Kawai, Takuya Naruto, Kenji Kurosawa
Published: 202510.1111/cge.70104
Abstract
A homozygous LZTR1 frameshift variant resulting from maternal uniparental disomy of chromosome 22 [UPD(22)] is associated with bone marrow failure and dysmorphic features distinct from those of Noonan syndrome. Biallelic LZTR1 variants lacking the se…
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