A Novel Homozygous <b><i>AMRH2</i></b> Gene Mutation in a Patient with Persistent Müllerian Duct Syndrome-Reference-Cited by-同舟云学术

A Novel Homozygous AMRH2 Gene Mutation in a Patient with Persistent Müllerian Duct Syndrome

Published:2019 Issue:2 Volume:13 Page:87-91
ISSN:1661-5425
Container-title:Sexual Development
language:en
Short-container-title:Sex Dev

Author:

Fernández-Cancio Mónica,Viswanath Naveen,Puzhankara Ramakrishnan,Valiyaprambil Pavithran Praveen,Mora-Palma Cristina,Camats Núria,Audí Laura,Benito-Sanz Sara

Publisher

S. Karger AG

Subject

Developmental Biology,Embryology,Endocrinology, Diabetes and Metabolism

Reference15 articles.

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2. Belville C, Maréchal JD, Pennetier S, Carmillo P, Masgrau L, et al: Natural mutations of the anti-Müllerian hormone type II receptor found in persistent Müllerian duct syndrome affect ligand binding, signal transduction and cellular transport. Hum Mol Genet 18:3002-3013 (2009).

3. Çakır AD, Turan H, Onay H, Emir H, Emre S, et al: A novel mutation of AMHR2 in two Siblings with persistent Müllerian duct syndrome. Sex Dev 11:289-292 (2017).

4. Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, et al: Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort. Genome Biol 17:243 (2016).

5. Imbeaud S, Faure E, Lamarre I, Mattéi MG, di Clemente N, et al: Insensitivity to anti-müllerian hormone due to a mutation in the human anti-müllerian hormone receptor. Nat Genet 11:382-388 (1995).

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3. Identification of AMH and AMHR2 Variants Led to the Diagnosis of Persistent Müllerian Duct Syndrome in Three Cases;Genes;2022-01-17

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5. Identification of four novel variant in the AMHR2 gene in six unrelated Turkish families;Journal of Endocrinological Investigation;2020-10-06