Trichorhinophalangeal syndrome type II due to a novel 8q23.3-q24.12 deletion associated with imperforate hymen and vaginal stenosis

British Journal of Dermatology

Volumn 171, Issue 6, 2014, Pages 1581-1583

  Plaza Benhumea, L ^a   Valdes Miranda, J M ^b   Toral Lopez J ^c   Perez Cabrera A ^b   Cuevas Covarrubias, S ^b  

^a Hospital Para El Niño IMIEM   (Mexico)

^b UNIVERSIDAD NACIONAL AUTÓNOMA DE MÉXICO   (Mexico)

^c Centro Médico Ecatepec ISSEMYM   (Mexico)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ADULT; APGAR SCORE; CASE REPORT; CHONDRODYSPLASIA; CHROMOSOME; CHROMOSOME 24Q; CHROMOSOME 8Q; CHROMOSOME DELETION; FACE ASYMMETRY; FEMALE; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYMEN; LETTER; MICROARRAY ANALYSIS; TRICHORHINOPHALANGEAL SYNDROME TYPE II; VAGINA ATRESIA; VAGINAL STENOSIS; WECHSLER INTELLIGENCE SCALE; YOUNG ADULT; GENE DELETION; GENETICS; HEMATOMETRA; PATHOLOGY; STENOSIS, OCCLUSION AND OBSTRUCTION; VAGINA DISEASE;

CONSTRICTION, PATHOLOGIC; FEMALE; GENE DELETION; HEMATOMETRA; HUMANS; LANGER-GIEDION SYNDROME; VAGINAL DISEASES; YOUNG ADULT;

EID: 84919459391     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/bjd.13177     Document Type: Letter

References (10)

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