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Endocrinology
46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Panel
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Panel
6q24 Methylation-Specific MLPA
Abnormal/Ambiguous Genitalia Panel
Alstrom Syndrome Testing (ALMS1)
Aniridia Testing (PAX6)
Bardet-Biedl Syndrome Panel
Comprehensive Lipodystrophy Panel
Congenital Generalized Lipodystrophy Panel
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals.
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