Adams-Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations
Author:
Affiliation:
1. Dell Medical School; Dell Children's Medical Center; University of Texas at Austin; Austin Texas
2. College of Medicine; Texas A&M University; Bryan Texas
Publisher
Wiley
Subject
Dermatology,Pediatrics, Perinatology, and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/pde.13239/fullpdf
Reference19 articles.
1. Online Mendelian Inheritance in Man Johns Hopkins University Baltimore, MD https://omim.org/
2. Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations;Lehman;Am J Med Genet A,2014
3. DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies;Sukalo;Hum Mutat,2015
4. The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects;Snape;Am J Med Genet A,2009
5. The Adams-Oliver syndrome in Spain: the epidemiological aspects;Martínez-Frías;An Esp Pediatr,1996
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2. Modeling the enigma of complex disease etiology;Journal of Translational Medicine;2023-02-25
3. Homozygosity for a novel DOCK6 variant in an individual without aplasia cutis congenita of the scalp and terminal transverse limb defects;Clinical Dysmorphology;2023-02-02
4. Intrafamilial phenotypic variability in autosomal recessive DOCK6-related Adams-Oliver syndrome;European Journal of Medical Genetics;2022-12
5. A case of Adams-Oliver syndrome associated with c.3190_3191del and c.4491 + 1G > T mutations in the DOCK6 gene;Meta Gene;2022-02
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