Associated Papers
Clinical phenotype of a Kallmann syndrome patient with IL17RD and CPEB4 variants.
Zhang J et al.
Frontiers in Endocrinology, 2024
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.
Patil VA et al.
Clinical Endocrinology, 2022
36138264 (PubMed )
Supplement: supplement_1.xlsx › Sheet1
Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene.
Taha I et al.
Genes, 2022
35893049 (PubMed )
Supplement: genes-13-01314-s001.zip › genes-1798999-supplementary.xlsx › Table_S4
Clinical and Genetic Characterization of a Constitutional Delay of Growth and Puberty Cohort.
Barroso PS et al.
Neuroendocrinology, 2020
New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism.
Amato LGL et al.
European Journal of Endocrinology, 2019
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