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The American Journal of Human Genetics, ISSN 0002-9297, 12/2017, Volume 101, Issue 6, pp. 995 - 1005
Journal Article
Journal Article
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 12/2012, Volume 97, Issue 12, pp. E2328 - E2338
Context: Acrodysostosis is a rare skeletal dysplasia that is associated with multiple resistance to G protein-coupled receptor (GPCR) signaling hormones in a... 
AUTOSOMAL-DOMINANT TRANSMISSION | PSEUDOHYPOPARATHYROIDISM | ISOFORMS | MENTAL-RETARDATION | PATTERN | KINASE | ENDOCRINOLOGY & METABOLISM | RECEPTOR | G-PROTEIN | NASAL HYPOPLASIA | PERIPHERAL DYSOSTOSIS | Cyclic Nucleotide Phosphodiesterases, Type 3 - genetics | Thyroid Hormone Resistance Syndrome - complications | Cyclic Nucleotide Phosphodiesterases, Type 4 | Receptors, G-Protein-Coupled - metabolism | Diagnostic Techniques, Endocrine | Humans | Child, Preschool | Intellectual Disability - complications | Male | Parathyroid Hormone - pharmacology | Cyclic AMP-Dependent Protein Kinase RIalpha Subunit - physiology | Intellectual Disability - genetics | Young Adult | Osteochondrodysplasias - genetics | Cyclic Nucleotide Phosphodiesterases, Type 3 - physiology | Parathyroid Hormone - metabolism | Adult | Female | Thyroid Hormone Resistance Syndrome - diagnosis | Child | Hormones - pharmacology | Dysostoses - genetics | Dysostoses - diagnosis | Dysostoses - complications | Osteochondrodysplasias - diagnosis | Syndrome | Drug Resistance - genetics | Hormones - metabolism | Cyclic AMP-Dependent Protein Kinase RIalpha Subunit - genetics | Intellectual Disability - diagnosis | Adolescent | Parathyroid Hormone - administration & dosage | Signal Transduction - physiology | Thyroid Hormone Resistance Syndrome - genetics | Osteochondrodysplasias - complications
Journal Article
Korean Journal of Pediatrics, ISSN 1738-1061, 03/2007, Volume 50, Issue 3, pp. 315 - 318
Journal Article
Best Practice & Research Clinical Endocrinology & Metabolism, ISSN 1521-690X, 12/2018, Volume 32, Issue 6, pp. 941 - 954
Journal Article
Journal Article
Journal of Vascular Surgery, ISSN 0741-5214, 1997, Volume 26, Issue 5, pp. 888 - 890
Journal Article
Molecular Medicine Reports, ISSN 1791-2997, 11/2017, Volume 16, Issue 5, pp. 5841 - 5846
The aim of the present study was to identify mutations in the fibroblast growth factor receptor 2 (FGFR2) gene in patients with Crouzon syndrome and... 
FGFR2 gene | Mutation | Crouzon syndrome | MEDICINE, RESEARCH & EXPERIMENTAL | mutation | GENE | ONCOLOGY | RECEPTOR-2 | CRANIOSYNOSTOSIS | FAMILY | Index Medicus
Journal Article
Biomedical Reports, ISSN 2049-9434, 2019, Volume 10, Issue 2, pp. 107 - 112
Crouzon syndrome is a rare autosomal dominant genetic disorder, which causes the premature fusion of the cranial suture. Fibroblast growth factor receptor 2... 
Fibroblast growth factor receptor 2 mutation | Molecular analysis | Vietnamese family case | Craniosynostosis | Crouzon syndrome
Journal Article
JCRPE Journal of Clinical Research in Pediatric Endocrinology, ISSN 1308-5727, 12/2017, Volume 9, Issue 4, pp. 360 - 365
Journal Article
Journal of Genetic Medicine, ISSN 1226-1769, 12/2010, Volume 7, Issue 2, pp. 145 - 150
Acrodysostosis is an extremely rare disorder characterized by short fingers and toes with peripheral dysostosis, nasal hypoplasia, and mental retardation. We... 
Spinal canal stenosis | Peripheral dysostosis | Madelung deformity | Acrodysostosis | Brachymelia | 의학일반
Journal Article