Identification of a pathogenic SMCHD1 variant in a Chinese patient with bosma arhinia microphthalmia syndrome: a case report
Abstract Background Bosma arhinia microphthalmia syndrome (BAMS; MIM603457) is a rare genetic disorder, predominantly autosomal dominant. It is a multi-system developmental disorder characterized by severe hypoplasia of the nose and eyes, and reproductive system defects. BAMS is extremely rare in th...
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| Main Authors: | , , , , , |
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| Format: | Book |
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BMC,
2024-05-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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