Douglas R Stewart Alexander Pemov Jennifer J Johnston Julie C Sapp Meredith Yeager Ji He Joseph F Boland Laurie Burdett Christina Brown Richard A Gatti Blanche P Alter Leslie G Biesecker Sharon A Savage
10.1371/journal.pone.0098686
PLoS One
2014 Jun 3;9(6):e98686.
CC0
https://pubmed.ncbi.nlm.nih.gov/24892279/
Eczema / diagnosis Eczema / genetics Growth Disorders / diagnosis Growth Disorders / genetics Intellectual Disability / diagnosis Intellectual Disability / genetics Microcephaly / diagnosis Microcephaly / genetics
Eczema / diagnosis Eczema / genetics Growth Disorders / diagnosis Growth Disorders / genetics Intellectual Disability / diagnosis Intellectual Disability / genetics Microcephaly / diagnosis Microcephaly / genetics Case Reports Research Support, N.I.H., Extramural Research Support, N.I.H., Intramural Adult Dyskeratosis Congenita / diagnosis Dyskeratosis Congenita / genetics Facies Female Frameshift Mutation / genetics Genetic Heterogeneity Genotype Humans Male Polymorphism, Single Nucleotide / genetics Telomere / genetics Dubowitz syndrome
PMC4043752
24892279
Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders
2014