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- [31] Inheritance of skewed X chromosome inactivation in a large family with an X-linked recessive deafness syndrome AMERICAN JOURNAL OF MEDICAL GENETICS, 1996, 64 (01): : 31 - 34
- [36] Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report BMC MEDICAL GENETICS, 2019, 20
- [40] Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family:: Confirmation of autosomal recessive inheritance? AMERICAN JOURNAL OF MEDICAL GENETICS, 2000, 92 (02): : 117 - 121