Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novelFBLN5mutation-Reference-Cited by-同舟云学术

Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novelFBLN5mutation

Published:2014-06-24 Issue:9 Volume:164 Page:2370-2377
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Kantaputra Piranit Nik¹²³⁴,Kaewgahya Massupa¹²³,Wiwatwongwana Atchareeya⁵,Wiwatwongwana Damrong⁵,Sittiwangkul Rekwan⁶,Iamaroon Anak⁷,Dejkhamron Prapai⁶^ORCID

Affiliation:

1. Center of Excellence in Medical Genetics Research; Chiang Mai University; Chiang Mai Thailand

2. Division of Pediatric Dentistry; Department of Orthodontics and Pediatric Dentistry; Faculty of Dentistry; Chiang Mai University; Chiang Mai Thailand

3. Craniofacial Genetics Laboratory; Faculty of Dentistry; Chiang Mai University; Chiang Mai Thailand

4. Dentaland Clinic; Chiang Mai Thailand

5. Department of Ophthalmology; Faculty of Medicine; Chiang Mai University; Chiang Mai Thailand

6. Department of Pediatrics; Faculty of Medicine; Chiang Mai University; Chiang Mai Thailand

7. Department of Oral Biology and Diagnostic Sciences; Faculty of Dentistry; Chiang Mai University; Chiang Mai Thailand

Funder

Center of Excellence in Medical Genetics Research, Chiang Mai University

The Thailand Research Fund (TRF)

Faculty of Dentistry, Chiang Mai University

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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5. Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Elastic Fiber Homeostasis;Advances in Experimental Medicine and Biology;2021