New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene

BMC Medical Genetics

Volumn 15, Issue 1, 2014, Pages

  Crippa, Milena ^a   Bestetti, Ilaria ^a,b   Perotti, Mario ^c   Castronovo, Chiara ^a   Tabano, Silvia ^b   Picinelli, Chiara ^a   Grassi, Guido ^c,d   Larizza, Lidia ^a,b   Pincelli, Angela I ^c   Finelli, Palma ^a,b  

^a ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c SAN GERARDO HOSPITAL   (Italy)

^d IRCCS MULTIMEDICA   (Italy)

Author keywords

Conserved enhancer element; Reciprocal translocation; TRPS; TRPS1

Indexed keywords

HEMOGLOBIN; METFORMIN; UNTRANSLATED RNA;

ADULT; AGE; ALOPECIA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BODY HEIGHT; BONE DENSITY; CASE REPORT; CAUCASIAN; CHROMOSOME 8Q; CHROMOSOME 8Q23.3; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; CRANIOFACIAL DYSMORPHISM; DUAL ENERGY X RAY ABSORPTIOMETRY; ENHANCER REGION; FACE DYSMORPHIA; FEMALE; FEMUR NECK; FOLLOW UP; GENE; GENE MUTATION; GENE TRANSLOCATION; GENOME; HEART VALVE REPLACEMENT; HEMOGLOBIN BLOOD LEVEL; HUMAN; HYSTERECTOMY; INTRAOPERATIVE PERIOD; LUMBAR SPINE; MENARCHE; MENOPAUSE; MENSTRUATION; MIDDLE AGED; MITRAL VALVE; MITRAL VALVE PROLAPSE; MITRAL VALVE REGURGITATION; NEUROLOGIC EXAMINATION; NUCLEOTIDE SEQUENCE; OSTEOPOROSIS; OUTPATIENT DEPARTMENT; PARATHYROID GLAND; PERSONAL EXPERIENCE; PHENOTYPE; PREGNANCY; PRIMARY HYPERPARATHYROIDISM; PROMOTER REGION; SCOLIOSIS; TERTIARY HYPERPARATHYROIDISM; TISSUE INJURY; TRICHORINOPHALANGEAL SYNDROME; TRPS1 GENE; UTERUS PROLAPSE; VITAMIN D DEFICIENCY;

BASE SEQUENCE; CHROMOSOME BREAKPOINTS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 2; CHROMOSOMES, HUMAN, PAIR 8; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTATIONAL BIOLOGY; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; FINGERS; HAIR DISEASES; HAND DEFORMITIES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LANGER-GIEDION SYNDROME; MIDDLE AGED; MUTATION; NOSE; PHENOTYPE; TRANSCRIPTION FACTORS; TRANSLOCATION, GENETIC;

EID: 84900334723     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-15-52     Document Type: Article

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