Clinical overlap of Beckwith-Wiedemann, Perlman and Simpson-Golabi-Behmel syndromes: a diagnostic pitfall
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1995.tb04307.x/fullpdf
Reference40 articles.
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2. A new X-linked dysplasiagigantism syndrome: follow-up of the first family and report on a second Austrian family;Behmel;Am J Med Genet,1988
3. Simpson-Golabi-Behmel syndrome: congenital diaphragmatic hernia and radiologic findings in two patients and follow-up of a previously diagnosed case;Chen;Am J Med Genet,1993
4. A case of Perlman syndrome associated with a cytogenetic abnormality of chromosome 11;Chernos;Am J Hum Genet,1990
5. A Comprehensive and Critical Assessment of Overgrowth and Overgrowth Syndromes
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2. DIS3L2 Gene Mutation Causes the Perlman Syndrome of Overgrowth and Wilms Tumor Susceptibility;Cureus;2023-12-01
3. Simpson–Golabi–Behmel syndrome with 46,XY disorders of sex development: A case report;American Journal of Medical Genetics Part A;2019-01-22
4. Ovotesticular Disorder of Sex Development (Ovotestis) in Simpson–Golabi–Behmel Syndrome: Expansion of the Clinical Spectrum;Pediatric and Developmental Pathology;2018-04-13
5. Nonisolated diaphragmatic hernia in Simpson-Golabi-Behmel syndrome;Prenatal Diagnosis;2018-01
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