Two novelPOC1Amutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations-Reference-Cited by-同舟云学术

Two novelPOC1Amutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations

Published:2015-09-16 Issue:1 Volume:170 Page:210-216
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Barraza-García Jimena¹²³,Iván Rivera-Pedroza Carlos¹³,Salamanca Luis⁴,Belinchón Alberta¹²³,López-González Vanesa²⁵,Sentchordi-Montané Lucía¹³⁶,del Pozo Ángela¹²,Santos-Simarro Fernando¹²³,Campos-Barros Ángel¹²,Lapunzina Pablo¹²³,Guillén-Navarro Encarna²⁵⁷,González-Casado Isabel³⁴,García-Miñaur Sixto¹²³,Heath Karen E.¹²³

Affiliation:

1. Institute of Medical & Molecular Genetics (INGEMM); Hospital Universitario La Paz; Universidad Autónoma de Madrid; IdiPAZ Madrid Spain

2. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER); Instituto Carlos III; Madrid Spain

3. Multidisciplinary Skeletal Dysplasia Unit (UMDE); Hospital Universitario La Paz; Madrid Spain

4. Department of Pediatric Endocrinology; Hospital Universitario La Paz; Universidad Autónoma de Madrid; Spain

5. Department of Pediatrics; Medical Genetics Section; Hospital Clínico Universitario Virgen de la Arrixaca; IMIB-Arrixaca; Murcia Spain

6. Department of Pediatric Endocrinology; Hospital Universitario Infanta Leonor; Madrid Spain

7. Cátedra de Genética Médica; UCAM-Universidad Católica San Antonio de Murcia; Spain

Funder

Ministerio de Economía y Competitividad

Comunidad de Madrid

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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