Klippel-Feil syndrome associated with situs inversus: Description of a new case and exclusion of GDF1, GDF3 and GDF6 as causal genes

European Journal of Medical Genetics

Volumn 55, Issue 6-7, 2012, Pages 414-417

  Chacón Camacho, Oscar ^a   Camarillo Blancarte, Leyla ^a   Pelaez González, Hugo ^b   Mendiola, Jaime ^a   Zenteno, Juan C ^a,c  

^a INSTITUTE OF OPHTHALMOLOGY CONDE DE VALENCIANA   (Mexico)

^b HOSPITAL GENERAL DE MÉXICO   (Mexico)

^c UNIVERSIDAD NACIONAL AUTÓNOMA DE MÉXICO   (Mexico)

Author keywords

GDF1; GDF3; GDF6; Klippel Feil; Left right asymmetry; Situs inversus

Indexed keywords

CELL DNA; GENOMIC DNA; GROWTH DIFFERENTIATION FACTOR 1; GROWTH DIFFERENTIATION FACTOR 3; GROWTH DIFFERENTIATION FACTOR 6;

ABDOMEN; ADULT; ARTICLE; CASE REPORT; CERVICAL SPINE RADIOGRAPHY; COMPUTER ASSISTED TOMOGRAPHY; ECHOGRAPHY; EXON; FEMALE; HUMAN; HUMAN CELL; IMAGE ANALYSIS; INTRON; KLIPPEL FEIL SYNDROME; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SITUS INVERSUS; THORAX;

ADULT; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; GROWTH DIFFERENTIATION FACTOR 1; GROWTH DIFFERENTIATION FACTOR 3; GROWTH DIFFERENTIATION FACTOR 6; HUMANS; KLIPPEL-FEIL SYNDROME; SITUS INVERSUS;

EID: 84862190165     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.03.007     Document Type: Article

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