Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis-Reference-Cited by-同舟云学术

Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis

Published:2022-07-20 Issue:12 Volume:42 Page:1503-1510
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenatal Diagnosis

Author:

Sarac Sivrikoz Tugba¹^ORCID,Kalayci Tugba²,Senturk Leyli²,Karaman Volkan²,Kalelioglu Ibrahim Halil¹,Has Recep¹,Kayserili Hulya³,Uyguner Zehra Oya²,Nishimura Gen⁴,Altunoglu Umut²³

Affiliation:

1. Division of Perinatology Department of Obstetrics and Gynecology Istanbul Faculty of Medicine Istanbul University Istanbul Turkey

2. Department of Medical Genetics Istanbul Faculty of Medicine Istanbul University Istanbul Turkey

3. Department of Medical Genetics Koc University School of Medicine (KUSOM) Istanbul Turkey

4. Center for Intractable Diseases Saitama Medical University Hospital Saitama Japan

Publisher

Wiley

Subject

Genetics (clinical),Obstetrics and Gynecology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/pd.6208

Reference22 articles.

1. Nosology and classification of genetic skeletal disorders: 2019 revision

2. Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia.

3. Blomstrand osteochondrodysplasia: three novel cases and histological evidence for heterogeneity

4. Blomstrand chondrodysplasia: a lethal sclerosing skeletal dysplasia

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