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ey0017.4-2 | Important for clinical practice | ESPEYB17

4.2. Genetic disorders in prenatal onset syndromic short stature identified by exome sequencing

TK Homma , BL Freire , RS Honjo Kawahira , A Dauber , MFA Funari , AM Lerario , MY Nishi , EV Albuquerque , GA Vasques , PF Collett-Solberg , SM Miura Sugayama , DR Bertola , CA Kim , IJP Arnhold , AC Malaquias , AAL Jorge

To read the full abstract: J Pediatr. 2019 Dec;215:192198.Identifying the diagnosis in children with syndromic short stature and those with recognized genetic growth disorders is often challenging, as they may share many clinical features (1)(2). The candidate gene approach has many limitations in unveiling the genetic cause. Therefore, whole exome sequencing (WES) has been proposed to improve the diagnostic rate in children with short sta...

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ey0020.3-8 | Advances in Clinical Practice | ESPEYB20

3.8. Nosology of genetic skeletal disorders: 2023 revision

S Unger , CR Ferreira , GR Mortier , H Ali , DR Bertola , A Calder , DH Cohn , V Cormier-Daire , KM Girisha , C Hall , D Krakow , O Makitie , S Mundlos , G Nishimura , SP Robertson , R Savarirayan , D Sillence , M Simon , VR Sutton , ML Warman , A Superti-Furga

In Brief: The 11th edition of the Nosology is significantly expanded, now covering 771 conditions linked to 552 genes. In a major shift from previous editions, it has adopted a dyadic naming system that defines disorders based on both their phenotypic and genetic features. It continues to be a vital tool for diagnosing and communicating about genetic skeletal disorders.Commentary: The first Nosology of genetic skeletal disorders was published...

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ESPE Yearbook of Paediatric Endocrinology

4.2. Genetic disorders in prenatal onset syndromic short stature identified by exome sequencing

3.8. Nosology of genetic skeletal disorders: 2023 revision

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