Precocious puberty and anal stenosis in an African patient with Rothmund–Thomson syndrome-Reference-Cited by-同舟云学术

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Precocious puberty and anal stenosis in an African patient with Rothmund–Thomson syndrome

Published:2022-09-26 Issue:1 Volume:191 Page:280-283
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Lorenzo Cristina¹^ORCID,Travessa André M.²³,Ferreira Ana Cristóvão¹,Modamio‐Høybjør Silvia⁴⁵⁶,Heath Karen E.⁴⁵⁶,Pereira Carla⁷

Affiliation:

1. Department of Pediatrics, Hospital de Santa Maria Centro Hospitalar Universitário Lisboa Norte, EPE Lisbon Portugal

2. Medical Genetics Department and ERN‐BOND, Hospital de Santa Maria Centro Hospitalar Universitário Lisboa Norte, EPE Lisbon Portugal

3. Faculty of Medicine, Institute of Histology and Developmental Biology University of Lisbon Lisbon Portugal

4. Skeletal Dysplasia Multidisciplinary Unit (UMDE) and ERN‐BOND La Paz University Hospital Madrid Spain

5. Institute of Medical and Molecular Genetics (INGEMM) La Paz University Hospital, IdiPAZ, Universidad Autónoma de Madrid Madrid Spain

6. CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), ISCIII Madrid Spain

7. Pediatric Endocrinology Unit, Department of Pediatrics Hospital de Santa Maria – Centro Hospitalar Universitário Lisboa Norte, EPE Lisbon Portugal

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62980

Reference13 articles.

1. Atypical plantar keratoderma, pachyonychia and clinodactyly in a patient with Rothmund-Thomson syndrome

2. Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia

3. Precocious Puberty and Normal Variant Puberty: Definition, etiology, diagnosis and current management - Review

4. Generalized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome

5. Novel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome

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