Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutation-Reference-Cited by-同舟云学术

Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutation

Author:

Amlie‐Wolf Louise¹^ORCID,Moyer‐Harasink Sue¹,Carr Ann‐Marie²,Giampietro Philip³^ORCID,Schneider Adele⁴,Simon Mitchell⁵

Affiliation:

1. Nemours A.I. Dupont Hospital for Children Wilmington Delaware

2. Center for Children with Special Health Care NeedsSt. Christopher's Hospital for Children Philadelphia Pennsylvania

3. Division of GeneticsRutgers‐Robert Wood Johnson Hospital New Brunswick New Jersey

4. Einstein Medical Center Philadelphia Genetics Philadelphia Pennsylvania

5. Division of General Diagnostic Radiology and the Section of Pediatric RadiologyRutgers‐Robert Wood Johnson Hospital New Brunswick New Jersey

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

Reference8 articles.

1. Genetic identification of a common collagen disease in Puerto Ricans via identity‐by‐descent mapping in a health system;Belbin G. M.;eLife,2017

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