Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene

American Journal of Medical Genetics, Part A

Volumn 155, Issue 10, 2011, Pages 2516-2520

  Gripp, Karen W ^a   Hopkins, Elizabeth ^a   Johnston, Jennifer J ^b   Krause, Caitlin ^b   Dobyns, William B ^c   Biesecker, Leslie G ^b  

^a NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

Author keywords

ASD; Cryptorchidism; Persistent left superior vena cava; Pierre Robin sequence; RBM10; Talipes equinovarus; X linked

Indexed keywords

NITRIC OXIDE;

AIR CONDITIONING; ARTICLE; BRACHYCEPHALY; CASE REPORT; CAUDATE NUCLEUS; CEREBELLUM HYPOPLASIA; CHILD; CHRONIC KIDNEY DISEASE; CHRONIC LUNG DISEASE; CISTERNA MAGNA; CLEFT PALATE; CLINODACTYLY; COMMUNICATION DISORDER; CORPUS CALLOSUM AGENESIS; CRYPTORCHISM; FRAMESHIFT MUTATION; GENE; HEART ATRIUM FLUTTER; HEART ATRIUM SEPTUM DEFECT; HETEROZYGOSITY; HIGH FREQUENCY VENTILATION; HUMAN; HUMAN TISSUE; INTELLECTUAL IMPAIRMENT; KIDNEY TUBULE ACIDOSIS; LUNG DYSPLASIA; MALE; MICROGNATHIA; MULTIPLE MALFORMATION SYNDROME; MYOPIA; NEWBORN; OPTIC NERVE ATROPHY; PALPEBRAL FISSURE ANOMALY; PERCEPTION DEAFNESS; PERSISTENT LEFT SUPERIOR VENA CAVA; PES EQUINOVARUS; PIERRE ROBIN SYNDROME; PLAGIOCEPHALY; PREMATURE LABOR; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMINENT EAR; PULMONARY HYPERTENSION; RBM10 GENE; REENTRY TACHYCARDIA; RESPIRATORY DISTRESS; STOMACH FUNDOPLICATION; SURVIVAL TIME; SYNDACTYLY; TARP SYNDROME; TRACHEOSTOMY; VISUAL IMPAIRMENT;

BRAIN; CHILD, PRESCHOOL; CLUBFOOT; DNA MUTATIONAL ANALYSIS; EXONS; HEART DEFECTS, CONGENITAL; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; PHENOTYPE; PIERRE ROBIN SYNDROME; RNA-BINDING PROTEINS; SURVIVAL RATE;

EID: 80053098820     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34190     Document Type: Article

References (3)

1. Gorlin RJ, Cervenka J, Anderson RC, Sauk JJ, Bevis WD. 1970. Robin's syndrome. A probably X-linked recessive subvariety exhibiting persistence of left superior vena cava and atrial septal defect. Am J Dis Child 119: 176-178.
2. Johnston JJ, Teer JK, Cherukuri PF, Hansen NF, Loftus SK, NIH Intramural Sequencing Center, Chong K, Mullikin JC, Biesecker LG. 2010. Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate. Am J Hum Genet 86: 743-748.
3. Kurpinski KT, Magyari PA, Gorlin RJ, Ng D, Biesecker LG. 2003. Designation of the TARP syndrome and linkage to Xp11.23-q13.3 without samples from affected patients. Am J Med Genet Part A 120A: 1-4.