Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.
Ehmke, Nadja
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome. [electronic resource] - American journal of human genetics Dec 2014 - 763-70 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2014.11.004 doi
Adolescent
Adult
Amino Acid Sequence
Child, Preschool
Exome--genetics
Female
Hand Deformities, Congenital--enzymology
Haplotypes
Heterozygote
Homozygote
Humans
Infant
Male
Middle Aged
Models, Molecular
Molecular Sequence Data
Mutation
Oxidoreductases--genetics
Pedigree
Pierre Robin Syndrome--enzymology
Sequence Alignment
Sequence Analysis, DNA
Young Adult
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome. [electronic resource] - American journal of human genetics Dec 2014 - 763-70 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2014.11.004 doi
Adolescent
Adult
Amino Acid Sequence
Child, Preschool
Exome--genetics
Female
Hand Deformities, Congenital--enzymology
Haplotypes
Heterozygote
Homozygote
Humans
Infant
Male
Middle Aged
Models, Molecular
Molecular Sequence Data
Mutation
Oxidoreductases--genetics
Pedigree
Pierre Robin Syndrome--enzymology
Sequence Alignment
Sequence Analysis, DNA
Young Adult