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Developmental defects
Original research
Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia

Authors

  • Francisca Díaz-González Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, UAM, Madrid, Spain Skeletal Dysplasia Multidisciplinary Unit (UMDE) and ERN-BOND, Hospital Universitario La Paz, Madrid, Spain PubMed articlesGoogle scholar articles
  • Saruchi Wadhwa Genomics and Molecular Medicine Division, CSIR—Institute of Genomics and Integrative Biology, New Delhi, India PubMed articlesGoogle scholar articles
  • Maria Rodriguez-Zabala Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, UAM, Madrid, Spain CIBERER, ISCIII, Madrid, Spain PubMed articlesGoogle scholar articles
  • Somesh Kumar Dept. of Pediatrics, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, India PubMed articlesGoogle scholar articles
  • Miriam Aza-Carmona Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, UAM, Madrid, Spain Skeletal Dysplasia Multidisciplinary Unit (UMDE) and ERN-BOND, Hospital Universitario La Paz, Madrid, Spain CIBERER, ISCIII, Madrid, Spain PubMed articlesGoogle scholar articles
  • Lucia Sentchordi-Montané Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, UAM, Madrid, Spain Skeletal Dysplasia Multidisciplinary Unit (UMDE) and ERN-BOND, Hospital Universitario La Paz, Madrid, Spain Dept. of Pediatrics, Hospital Universitario Infanta Leonor, Madrid, Spain Dept. of Pediatrics, Universidad Complutense de Madrid, Madrid, Spain PubMed articlesGoogle scholar articles
  • Milagros Alonso Dept. of Pediatric Endocrinology, Hospital Universitario Ramon y Cajal, Madrid, Spain PubMed articlesGoogle scholar articles
  • Istaq Ahmad Genomics and Molecular Medicine Division, CSIR—Institute of Genomics and Integrative Biology, New Delhi, India PubMed articlesGoogle scholar articles
  • Sana Zahra Genomics and Molecular Medicine Division, CSIR—Institute of Genomics and Integrative Biology, New Delhi, India PubMed articlesGoogle scholar articles
  • Deepak Kumar Genomics and Molecular Medicine Division, CSIR—Institute of Genomics and Integrative Biology, New Delhi, India PubMed articlesGoogle scholar articles
  • Neetu Kushwah Genomics and Molecular Medicine Division, CSIR—Institute of Genomics and Integrative Biology, New Delhi, India PubMed articlesGoogle scholar articles
  • Uzma Shamim Genomics and Molecular Medicine Division, CSIR—Institute of Genomics and Integrative Biology, New Delhi, India PubMed articlesGoogle scholar articles
  • Haseena Sait Dept. of Pediatrics, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, India PubMed articlesGoogle scholar articles
  • Seema Kapoor Dept. of Pediatrics, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, India PubMed articlesGoogle scholar articles
  • Belen Roldán Dept. of Pediatric Endocrinology, Hospital Universitario Ramon y Cajal, Madrid, Spain PubMed articlesGoogle scholar articles
  • Gen Nishimura Center for Intractable Disease, Saitama Medical University Hospital, Saitama, Japan PubMed articlesGoogle scholar articles
  • Amaka C Offiah Academic Unit of Chlld Health, The University of Sheffield, Sheffield, UK Dept. of Radiology and ERN-BOND, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK PubMed articlesGoogle scholar articles
  • Mohammed Faruq Genomics and Molecular Medicine Division, CSIR—Institute of Genomics and Integrative Biology, New Delhi, India PubMed articlesGoogle scholar articles
  • Karen E. Heath Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, UAM, Madrid, Spain Skeletal Dysplasia Multidisciplinary Unit (UMDE) and ERN-BOND, Hospital Universitario La Paz, Madrid, Spain CIBERER, ISCIII, Madrid, Spain PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Karen E. Heath, INGEMM, Hospital Universitario La Paz, Madrid 28046, Spain; karen.heath{at}salud.madrid.org
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Citation

Díaz-González F, Wadhwa S, Rodriguez-Zabala M, et al
Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia
Journal of Medical Genetics 2022;59:28-38.

Publication history

  • Received May 18, 2020
  • Revised September 22, 2020
  • Accepted September 23, 2020
  • First published October 26, 2020.
Online issue publication 
December 15, 2021

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© Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.