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
Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report.
Baz-Redón N et al.
Frontiers in Endocrinology, 2022
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