Carrascosa-Romero, Marķa Carmen

A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with Marden-Walker syndrome. [electronic resource] - American journal of medical genetics. Part A Sep 2013 - 2281-90 p. digital

Publication Type: Case Reports; Journal Article

1552-4833

10.1002/ajmg.a.35862 doi


Abnormalities, Multiple--diagnosis
Arachnodactyly--diagnosis
Blepharophimosis--diagnosis
Brain--pathology
Child
Chromosome Banding
Chromosome Deletion
Chromosome Mapping
Chromosomes, Human, Pair 21
Comparative Genomic Hybridization
Connective Tissue Diseases--diagnosis
Contracture--diagnosis
Facies
Female
Humans
Phenotype