Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6-Reference-Cited by-同舟云学术

Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6

Published:2020-02-20 Issue:4 Volume:97 Page:649-654
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Agolini Emanuele¹^ORCID,Cherchi Claudio²^ORCID,Bellacchio Emanuele³,Martinelli Diego⁴,Cocciadiferro Dario¹,Cutrera Renato²,Chiarini Testa Maria B.²,Barone Chiara⁵,Bianca Sebastiano⁵,Novelli Antonio¹

Affiliation:

1. Laboratory of Medical Genetics UnitOspedale Pediatrico Bambino Gesù Rome Italy

2. Respiratory Unit, Academic Department of PediatricsOspedale Pediatrico Bambino Gesù Rome Italy

3. Genetics and Rare Diseases Research DivisionOspedale Pediatrico Bambino Gesù Rome Italy

4. Division of Metabolism, Department of Pediatric SpecialtiesOspedale Pediatrico Bambino Gesù Rome Italy

5. Medical Genetics, Referral Centre for Rare Genetic Diseases, ARNAS Garibaldi Catania Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13691

Reference14 articles.

1. Arthrogryposis: an update on clinical aspects, etiology, and treatment strategies

2. Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles

3. Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

4. Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

5. Mapping of adenylyl cyclase genes type I, II, III, IV, V, and VI in mouse

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