Meier-Gorlin syndrome Clinical genetics and genomics

Orphanet Journal of Rare Diseases

Volumn 10, Issue 1, 2015, Pages

  De Munnik, Sonja A ^a   Hoefsloot, Elisabeth H ^b   Roukema, Jolt ^a   Schoots, Jeroen ^a   Knoers, Nine Vam ^c   Brunner, Han G ^a   Jackson, Andrew P ^d   Bongers, Ernie Mhf ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d WESTERN GENERAL HOSPITAL   (United Kingdom)

Author keywords

Ear patella short stature syndrome; Meier Gorlin syndrome; Microtia; Origin recognition complex; Patellar a hypoplasia; Pre replication complex; Short stature

Indexed keywords

BETA 2 ADRENERGIC RECEPTOR BLOCKING AGENT; CELL CYCLE PROTEIN 6; ESTROGEN; GROWTH HORMONE; REPLICATION LICENSING FACTOR CDT1; SOMATOMEDIN C RECEPTOR;

AUTOSOMAL RECESSIVE DISORDER; BONE MALFORMATION; BREAST HYPOPLASIA; CDC6 GENE; CDT1 GENE; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DNA REPLICATION; DWARFISM; ECHOGRAPHY; ENTERIC FEEDING; EXERCISE; FEEDING DIFFICULTY; GENE; GENE MUTATION; GENETIC COUNSELING; GROWTH RETARDATION; HEARING IMPAIRMENT; HORMONAL THERAPY; HUMAN; KNEE OSTEOARTHRITIS; KNEE PAIN; LARYNGOMALACIA; LUNG EMPHYSEMA; MALE INFERTILITY; MEIER GORLIN SYNDROME; MICROCEPHALY; MICROTIA; ORC1 GENE; ORC4 GENE; ORC6 GENE; PATELLA DISLOCATION; PATELLAR ANOMALY; PREMATURE LABOR; PRENATAL DIAGNOSIS; PROGNOSIS; RETROGNATHIA; REVIEW; SHORT STATURE; ABNORMALITIES; ABNORMALITIES, MULTIPLE; CONGENITAL MICROTIA; FEMALE; GENETICS; GROWTH DISORDERS; MALE; MICROGNATHISM; PATELLA; UROGENITAL ABNORMALITIES;

ABNORMALITIES, MULTIPLE; CONGENITAL MICROTIA; FEMALE; GROWTH DISORDERS; HUMANS; MALE; MICROGNATHISM; PATELLA; UROGENITAL ABNORMALITIES;

EID: 84941791041     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-015-0322-x     Document Type: Review

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