Ellis-van Creveld syndrome resulting from segmental uniparental disomy of chromosome 4.
Tompson
S W
SW
Ruiz-Perez
V L
VL
Wright
M J
MJ
Goodship
J A
JA
D002869:Chromosome Aberrations; D002894:Chromosomes, Human, Pair 4; D004613:Ellis-Van Creveld Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D016254:Mutagenesis, Insertional; D011110:Polymorphism, Genetic; D020080:Tandem Repeat Sequences