Not just a carrier: Clinical presentation and management of patients with heterozygous disease‐causing alkaline phosphatase ( <i>ALPL</i> ) variants identified through expanded carrier screening-Reference-Cited by-同舟云学术

Not just a carrier: Clinical presentation and management of patients with heterozygous disease‐causing alkaline phosphatase ( ALPL ) variants identified through expanded carrier screening

Published:2022-11-28 Issue:1 Volume:11 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Beck Natalie M.¹²,Sagaser Katelynn G.³⁴^ORCID,Lawson Cathleen S.³,Hertenstein Christine³,Jachens Ashley⁵,Forster Katherine R.⁶⁷,Miller Kristen A.³^ORCID,Jelin Angie C.³^ORCID,Blakemore Karin J.³,Hoover‐Fong Julie¹

Affiliation:

1. Greenberg Center for Skeletal Dysplasias, Department Genetic of Medicine Johns Hopkins University School of Medicine Baltimore Maryland USA

2. Genome Medical Services San Francisco California USA

3. Division of Maternal Fetal Medicine, Department of Gynecology and Obstetrics Johns Hopkins University School of Medicine Baltimore Maryland USA

4. JunoDx San Diego California USA

5. Center for Maternal and Fetal Medicine Howard County General Hospital, Johns Hopkins Hospital Baltimore Maryland USA

6. Center for Fetal Therapy Johns Hopkins University School of Medicine Baltimore Maryland USA

7. Sibley Memorial Hospital Maternal Fetal Medicine Washington District of Columbia USA

Funder

National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2056

Reference43 articles.

1. Angulated femurs and the skeletal dysplasias: Experience of the International Skeletal Dysplasia Registry (1988–2006)

2. Blakemore K. Sagaser K. G. Hoover‐Fong J. Beck N. Lawson C. Leppert K. Hertenstein C. Forster K. R. Trebes S. &Jelin A. C.(2019).Fool me once: The dilemma of fetal long bone bowing. [Oral presentation]. In38th Annual International Fetal Medicine & Surgery Society Meeting Sils Switzerland.

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