共 50 条
- [22] Deafness associated with bilateral facial diplegia, ptosis and hypermobile joints - A new autosomal recessive condition? AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 122A (01): : 84 - 88
- [26] AUTOSOMAL DOMINANT PARTIAL LIPODYSTROPHY ASSOCIATED WITH RIEGER ANOMALY, SHORT STATURE, AND INSULINOPENIC DIABETES AMERICAN JOURNAL OF MEDICAL GENETICS, 1983, 15 (01): : 29 - 38
- [27] SHORT STATURE, ROBIN SEQUENCE, CLEFT MANDIBLE, PRE/POSTAXIAL HAND ANOMALIES, AND CLUBFOOT - A NEW AUTOSOMAL RECESSIVE SYNDROME AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 42 (05): : 681 - 687
- [28] Autosomal Recessive Mental Retardation, Deafness, Ankylosis, and Mild Hypophosphatemia Associated with a Novel ANKH Mutation in a Consanguineous Family JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2011, 96 (01): : E189 - E198