De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome

American Journal of Human Genetics

Volumn 97, Issue 6, 2015, Pages 904-913

  Burrage, Lindsay C ^a,d   Charng, Wu Lin ^a   Eldomery, Mohammad K ^a   Willer, Jason R ^b   Davis, Erica E ^b   Lugtenberg, Dorien ^c   Zhu, Wenmiao ^e   Leduc, Magalie S ^a   Akdemir, Zeynep C ^a   Azamian, Mahshid ^a   Zapata, Gladys ^a   Hernandez, Patricia P ^a   Schoots, Jeroen ^c   De Munnik, Sonja A ^c   Roepman, Ronald ^c   Pearring, Jillian N ^b   Jhangiani, Shalini ^a   Katsanis, Nicholas ^b   Vissers, Lisenka E L M ^c   Brunner, Han G ^c   Beaudet, Arthur L ^a   Rosenfeld, Jill A ^a   Muzny, Donna M ^a   Gibbs, Richard A ^a   Eng, Christine M ^a,e   Xia, Fan ^a,e   Lalani, Seema R ^a,e   Lupski, James R ^a,d   Bongers, Ernie M H F ^c   Yang, Yaping ^a,e   more..

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d TEXAS CHILDREN S HOSPITAL   (United States)

^e BAYLOR GENETICS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANAPHASE PROMOTING COMPLEX; CELL CYCLE PROTEIN 6; DNA; GEMININ; GROWTH HORMONE; ORC1 PROTEIN; ORC4 PROTEIN; ORC6 PROTEIN; ORIGIN RECOGNITION COMPLEX; REPLICATION LICENSING FACTOR CDT1; RNA; TESTOSTERONE; UNCLASSIFIED DRUG; GMNN PROTEIN, HUMAN;

ANAPHASE; ARTICLE; ATRESIA; AUTOSOMAL DOMINANT PRIMORDIAL DWARFISM; BASAL CELL NEVUS SYNDROME; BONE AGE; BRONCHOMALACIA; BRONCHOSCOPY; CASE REPORT; CELL CYCLE M PHASE; CELL CYCLE PROGRESSION; CELL CYCLE REGULATION; CELL CYCLE S PHASE; CHILD; CLEFT PALATE; COCHLEA PROSTHESIS; CONDUCTION DEAFNESS; CONVERGENT STRABISMUS; DELAYED PUBERTY; DNA REPLICATION; DWARFISM; ECHOCARDIOGRAPHY; EMPHYSEMA; ENTROPION; FAILURE TO THRIVE; FEEDING DIFFICULTY; FEMALE; FRONTAL BOSSING; GAIN OF FUNCTION MUTATION; GASTROESOPHAGEAL REFLUX; GENE MUTATION; GENE SEQUENCE; GROWTH HORMONE DEFICIENCY; HETEROZYGOSITY; HIP DYSPLASIA; HUMAN; HYPOPLASIA; INFANT; INTRAUTERINE GROWTH RETARDATION; KARYOTYPING; MANDIBULOFACIAL DYSOSTOSIS; METAPHASE; MICROGNATHIA; MICROTIA; MIDFACE HYPOPLASIA; MIDPHALANGEAL HYPOPLASIA; MISSENSE MUTATION; MOLECULAR PATHOLOGY; NEUROIMAGING; NOSE FEEDING; NUCLEAR MAGNETIC RESONANCE IMAGING; PALPEBRAL FISSURE; PHYSICAL EXAMINATION; PLACENTA INSUFFICIENCY; PREMATURITY; PRIORITY JOURNAL; PROTEIN STABILITY; PSYCHOMOTOR DEVELOPMENT; RENOGRAPHY; RNA SPLICING; SHORT STATURE; SUBGLOTTIC STENOSIS; TRACHEOMALACIA; UMBILICAL HERNIA; ABNORMALITIES; ADOLESCENT; AMINO ACID SEQUENCE; CELL CYCLE; DOMINANT GENE; EXON; GENE EXPRESSION; GENETICS; GROWTH DISORDER; HETEROZYGOTE; HIGH THROUGHPUT SEQUENCING; INHERITANCE; MALE; METABOLISM; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATELLA; PATHOLOGY; PEDIGREE; PRESCHOOL CHILD; PROTEIN DEGRADATION; SEQUENCE ALIGNMENT;

ADOLESCENT; AMINO ACID SEQUENCE; BASE SEQUENCE; CELL CYCLE; CHILD, PRESCHOOL; CONGENITAL MICROTIA; DWARFISM; EXONS; FEMALE; GEMININ; GENE EXPRESSION; GENES, DOMINANT; GROWTH DISORDERS; HETEROZYGOTE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INHERITANCE PATTERNS; MALE; MICROGNATHISM; MOLECULAR SEQUENCE DATA; MUTATION; PATELLA; PEDIGREE; PROTEIN STABILITY; PROTEOLYSIS; RNA SPLICING; SEQUENCE ALIGNMENT;

EID: 84951788229     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.11.006     Document Type: Article

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