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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 5 (of 5 Records)

Query Trace: Ehlers-Danlos Syndrome and CYP21A2[original query]
Measurement of serum tenascin-X in patients with congenital adrenal hyperplasia at risk for Ehlers-Danlos contiguous gene deletion syndrome CAH-X.
BMC research notes 2019 Oct 12 (1): 711.
Kolli Vipula, Kim Hannah, Rao Hamsini, Lao Qizong, Gaynor Alison, Milner Joshua D, Merke Deborah
The Prevalence of the Chimeric TNXA/TNXB Gene and Clinical Symptoms of Ehlers-Danlos Syndrome with 21-Hydroxylase Deficiency.
The Journal of clinical endocrinology and metabolism 2020 Apr .
Gao Yinjie, Lu Lin, Yu Bingqing, Mao Jiangfeng, Wang Xi, Nie Min, Wu Xuey
Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia.
The Journal of clinical endocrinology and metabolism 2021 1 106 (7): e2789-e2802.
Marino Roxana, Garrido Natalia Perez, Ramirez Pablo, Notaristéfano Guillermo, Moresco Angélica, Touzon Maria Sol, Vaiani Elisa, Finkielstain Gabriela, Obregón María Gabriela, Balbi Viviana, Soria Ianina, Belgorosky Alic
Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency.
Journal of clinical medicine 2022 7 11 (13): .
Paragliola Rosa Maria, Perrucci Alessia, Foca Laura, Urbani Andrea, Concolino Pao
Pseudogene TNXA Variants May Interfere with the Genetic Testing of CAH-X.
Genes 2023 2 14 (2): .
Lao Qizong, Zhou Kiet, Parker Megan, Faucz Fabio R, Merke Deborah
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