Associated Papers
Four New Patients of HHAT -Related Multiple Congenital Anomalies Syndrome (Nivelon-Nivelon-Mabille Syndrome) and a Comprehensive Literature Review.
Arı ABD et al.
American Journal of Medical Genetics. Part A, 2025
Diverse genetic causes of amenorrhea in an ethnically homogeneous cohort and an evolving approach to diagnosis.
Bakhshalizadeh S et al.
Molecular and Cellular Endocrinology, 2024
Muscle spasms as presenting feature of Nivelon-Nivelon-Mabile syndrome.
Saini N et al.
American Journal of Medical Genetics. Part A, 2023
Hedgehog acyl-transferase-related multiple congenital anomalies: Report of an additional family and delineation of the syndrome.
Pande S et al.
American Journal of Medical Genetics. Part A, 2021
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