Annals of Pediatric Endocrinology & Metabolism

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Identification of a novel point mutation in DAX-1 gene in a patient with adrenal hypoplasia congenita

Han Saem Choi, Ahreum Kwon, Hyun Wook Chae, Junghwan Suh, Kyung Chul Song, Jin-Sung Lee, Ho-Seong Kim

Ann Pediatr Endocrinol Metab. 2021;26(2):126-129. Published online June 30, 2021
DOI: https://doi.org/10.6065/apem.2040088.044

Late-onset adrenal hypoplasia congenita caused by a novel mutation of the DAX-1 gene

E. Eugster

Yearbook of Endocrinology. 2009;2009:299-300

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Identification of a novel point mutation in DAX-1 gene in a patient with adrenal hypoplasia congenita

Han Saem Choi, Ahreum Kwon, Hyun Wook Chae, Junghwan Suh, Kyung Chul Song, Jin-Sung Lee, Ho-Seong Kim

Annals of Pediatric Endocrinology & Metabolism. 2021;26(2):126-129

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X-linked adrenal hypoplasia congenita: Novel missense mutation of DAX-1 gene

Ángela Domínguez García, Alfredo Santana Rodríguez, María Fátima Cabrera Guedes

Medicina Clínica (English Edition). 2019;152(6):242-243

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X-Linked Adrenal Hypoplasia Congenita Caused by a Novel Intronic Mutation of the<i> DAX-1</i> Gene

Masahiro Goto, Noriyuki Katsumata

Hormone Research in Paediatrics. 2009;71(2):120-124

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Late-onset adrenal hypoplasia congenita caused by a novel mutation of the DAX-1 gene

Fan Yang, Keiichi Hanaki, Tomoe Kinoshita, Yuki Kawashima, Jun-ichi Nagaishi, Susumu Kanzaki

European Journal of Pediatrics. 2008;168(3):329-331

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Gonadotropin-Dependent Precocious Puberty in a Patient with X-Linked Adrenal Hypoplasia Congenita Caused by a Novel DAX-1 Mutation

Sukran Darcan, Damla Goksen, Samim Ozen, Ferda Ozkinay, Burak Durmaz, Enzo Lalli

Hormone Research in Paediatrics. 2010;75(2):153-156

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Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report

Lorenzo Iughetti, Laura Lucaccioni, Patrizia Bruzzi, Silvia Ciancia, Elena Bigi, Simona Filomena Madeo, Barbara Predieri, Florence Roucher-Boulez

BMC Medical Genetics. 2019;20(1):

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NOVEL DAX-1 (NR0B1) MUTATION IN A THAI BOY WITH X-LINKED ADRENAL HYPOPLASIA CONGENITA (AHC): A FIRST REPORT

Voraluck Phatarakijnirund, Nawaporn Numbenjapon, Piriya Chantrathammachart, Boonchai Boonyawat

Journal of Southeast Asian Medical Research. 2017;1(2):81-84

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X-linked congenital adrenal hypoplasia with a novel NR0B1/DAX gene mutation

Mary B. Abraham, Vinutha B. Shetty, Fiona McKenzie, Jacqueline Curran

Indian Pediatrics. 2016;53(6):529-531

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X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: Report on new mutation of the DAX-1 gene in two siblings

V. Calvari, M. G. Alpigiani, E. Poggi, B. Podesta, G. Camerino, R. Lorini

Journal of Endocrinological Investigation. 2006;29(1):41-47

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