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The novel founder homozygous V225M mutation in the HSD17B3 gene causes aberrant splicing and XY-DSD.
Levy-Khademi, Floris; Zeligson, Sharon; Lavi, Eran; Klopstock, Tehila; Chertin, Boris; Avnon-Ziv, Carmit; Abulibdeh, Abdulsalam; Renbaum, Paul; Rosen, Tzvia; Perlberg-Bengio, Shira; Zahdeh, Fouad; Behar, Doron M; Levy-Lahad, Ephrat; Zangen, David; Segel, Reeval.
Afiliación
  • Levy-Khademi F; Division of Pediatric Endocrinology, Department of Pediatrics, Shaare Zedek Medical Center, Jerusalem, Israel. florislevy@gmail.com.
  • Zeligson S; The Hebrew University School of Medicine, Jerusalem, Israel. florislevy@gmail.com.
  • Lavi E; The institute of Medical Genetics, Shaare Zedek Medical Center, Jerusalem, Israel.
  • Klopstock T; The Hebrew University School of Medicine, Jerusalem, Israel.
  • Chertin B; Division of Pediatric Endocrinology, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
  • Avnon-Ziv C; The Hebrew University School of Medicine, Jerusalem, Israel.
  • Abulibdeh A; The institute of Medical Genetics, Shaare Zedek Medical Center, Jerusalem, Israel.
  • Renbaum P; The Hebrew University School of Medicine, Jerusalem, Israel.
  • Rosen T; Department of Pediatric Urology, Shaare Zedek Medical Center, Jerusalem, Israel.
  • Perlberg-Bengio S; Division of Pediatric Endocrinology, Department of Pediatrics, Shaare Zedek Medical Center, Jerusalem, Israel.
  • Zahdeh F; The Hebrew University School of Medicine, Jerusalem, Israel.
  • Behar DM; Division of Pediatric Endocrinology, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
  • Levy-Lahad E; The institute of Medical Genetics, Shaare Zedek Medical Center, Jerusalem, Israel.
  • Zangen D; The institute of Medical Genetics, Shaare Zedek Medical Center, Jerusalem, Israel.
  • Segel R; The institute of Medical Genetics, Shaare Zedek Medical Center, Jerusalem, Israel.
Endocrine ; 69(3): 650-654, 2020 09.
Article en En | MEDLINE | ID: mdl-32372306
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastorno del Desarrollo Sexual 46,XY Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Humans / Infant / Male Idioma: En Revista: Endocrine Asunto de la revista: ENDOCRINOLOGIA Año: 2020 Tipo del documento: Article País de afiliación: Israel
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastorno del Desarrollo Sexual 46,XY Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Humans / Infant / Male Idioma: En Revista: Endocrine Asunto de la revista: ENDOCRINOLOGIA Año: 2020 Tipo del documento: Article País de afiliación: Israel