Intriguing link between fetal intracranial hemorrhage and X‐linked recessive chondrodysplasia punctata-Reference-Cited by-同舟云学术

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Intriguing link between fetal intracranial hemorrhage and X‐linked recessive chondrodysplasia punctata

Published:2024-08 Issue:2 Volume:64 Page:259-261
ISSN:0960-7692
Container-title:Ultrasound in Obstetrics & Gynecology
language:en
Short-container-title:Ultrasound in Obstet & Gyne

Author:

Létard P.¹,Wintjens R.²,Van‐Gils J.³,Martinovic J.⁴,Laffargue F.⁵,Dufernez F.¹,Egloff M.¹⁶^ORCID

Affiliation:

1. CHU de Poitiers, Service de Génétique Poitiers France

2. Unit of Microbiology, Bioorganic and Macromolecular Chemistry, Department of Research in Drug Development (RD3), Faculté de Pharmacie Université Libre de Bruxelles Brussels Belgium

3. Service de Génétique Centre Hospitalier Universitaire de Bordeaux Bordeaux France

4. Unité de Foetopathologie, Hôpital Antoine‐Béclère Assistance Publique‐Hôpitaux de Paris Clamart France

5. Service de Génétique Centre Hospitalier Universitaire de Clermont Ferrand Clermont Ferrand France

6. Université de Poitiers INSERM 1084, LNEC Poitiers France

Publisher

Wiley

Link

https://obgyn.onlinelibrary.wiley.com/doi/pdf/10.1002/uog.27573

Reference4 articles.

1. Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata

2. The Lysosomal Protein Arylsulfatase B Is a Key Enzyme Involved in Skeletal Turnover

3. A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies

4. Accurate proteome-wide missense variant effect prediction with AlphaMissense

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