Prenatal bone abnormalities in three cases of familial hypocalciuric hypercalcemia-Reference-Cited by-同舟云学术

Prenatal bone abnormalities in three cases of familial hypocalciuric hypercalcemia

Published:2022-03-23 Issue:5 Volume:42 Page:583-588
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenatal Diagnosis

Author:

Frerot Alice¹,Baudouin Véronique²,Rideau‐Batista Aline¹,Couderc Anne²,Garel Catherine³,Soltane Samia⁴,Colella Marina¹,Vargas‐Poussou Rosa⁵,Hureaux Marguerite⁵^ORCID

Affiliation:

1. Neonatology Department Hôpital Universitaire Robert Debré‐APHP Paris France

2. Paediatric Nephrology Department Hôpital Universitaire Robert Debré‐APHP Paris France

3. Radiology Department Hôpital Armand Trousseau‐APHP Paris France

4. Obstetric Department Clinique Gaston Metivet Saint Maure Des Fossés France

5. Genetic Department Hôpital Européen Georges Pompidou‐APHP Paris France

Publisher

Wiley

Subject

Genetics (clinical),Obstetrics and Gynecology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/pd.6134

Reference15 articles.

1. A guide to the recognition of skeletal disorders in the fetus

2. Nosology and classification of genetic skeletal disorders: 2015 revision

3. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

4. Calcium-sensing receptor mutations in familial hypocalciuric hypercalcaemia with recurrent pancreatitis

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