Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: Choanal atresia leading to misdiagnosis of CHARGE syndrome

European Journal of Endocrinology

Volumn 160, Issue 4, 2009, Pages 711-717

  Fernández Rebollo, Eduardo ^a,c   Pérez, Olga ^b   Martinez Bouzas, Cristina ^a   Cotarelo Pérez, Maria Carmen ^b   Garin, Intza ^a,c   Ruibal, Jose Luis ^b   Pérez Nanclares, Gustavo ^a   Castaño, Luis ^a,c   Pérez de Nanclares, Guiomar ^a,c  

^a HOSPITAL DE CRUCES   (Spain)

^b HOSPITAL CLÍNICO SAN CARLOS   (Spain)

^c INSTITUTO DE SALUD CARLOS III   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; BLEPHAROPHIMOSIS; BODY DYSMORPHIC DISORDER; CASE REPORT; CHOANA ATRESIA; CHROMOSOME 2Q; CHROMOSOME DELETION; DEVELOPMENTAL DISORDER; DIAGNOSTIC ERROR; DIVERGENT STRABISMUS; EXTERNAL EAR MALFORMATION; FACE DYSMORPHIA; FEMALE; GENE DELETION; GENE SEGREGATION; GENE SEQUENCE; GENE TRANSLOCATION; GENETIC ANALYSIS; GENOMIC IN SITU HYBRIDIZATION; HEMIHYPERTROPHY; HUMAN; MOLECULAR GENETICS; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SYNDROME CHARGE; BODY WEIGHT; CHROMOSOME 2; DIFFERENTIAL DIAGNOSIS; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC MARKER; GENETICS; MALE; MULTIPLE MALFORMATION SYNDROME; OBESITY; PHENOTYPE; PHYSIOLOGY; SYNDROME;

GNAS PROTEIN, HUMAN; STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN;

ABNORMALITIES, MULTIPLE; ADOLESCENT; BODY WEIGHT; CHOANAL ATRESIA; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 2; DIAGNOSIS, DIFFERENTIAL; FEMALE; GENETIC MARKERS; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; OBESITY; PHENOTYPE; SYNDROME; TRANSLOCATION, GENETIC;

EID: 64549086808     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-08-0865     Document Type: Article

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