Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement

Journal of Medical Genetics

Volumn 52, Issue 10, 2015, Pages 706-709

  Kim, Juwon ^a   Won, Hong Hee ^b,c,d   Kim, Yoonjung ^a   Choi, Jong Rak ^e   Yu, Nae ^e   Lee, Kyung A ^e  

^a Yonsei University Wonju College of Medicine   (South Korea)

^b GENERAL HOSPITAL   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^e Yonsei University College of Medicine   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CARTILAGE CELL; CASE REPORT; CELL DIFFERENTIATION; CELL PROLIFERATION; CHILD; CHROMOSOME 2Q; CHROMOSOME ANALYSIS; CHROMOSOME BAND; CHROMOSOME BREAKAGE; CHROMOSOME REARRANGEMENT; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; CRANIOFACIAL SYNOSTOSIS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DISRUPTION; GENE MAPPING; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; INTRON; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; PTH2R GENE; CHROMOSOME INVERSION; DEFICIENCY; DNA SEQUENCE; GENE TRANSLOCATION; GENETICS; INFANT;

PARATHYROID HORMONE RECEPTOR 2;

CHROMOSOME INVERSION; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIOSYNOSTOSES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MALE; RECEPTOR, PARATHYROID HORMONE, TYPE 2; SEQUENCE ANALYSIS, DNA; TRANSLOCATION, GENETIC;

EID: 84945360382     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2015-103001     Document Type: Article

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