From gestalt to gene: Early predictive dysmorphic features of PMM2-CDG

Journal of Medical Genetics

Volumn 56, Issue 4, 2019, Pages 236-245

  Martinez Monseny, Antonio ^a   Cuadras, Daniel ^b   Bolasell, Mercè ^a   Muchart, Jordi ^c,d   Arjona, César ^a   Borregan, Mar ^a   Algrabli, Adi ^e   Montero, Raquel ^c,d   Artuch, Rafael ^c,d   Velázquez Fragua, Ramón ^f   Macaya, Alfons ^g   Pérez Cerdá, Celia ^h   Pérez Dueñas, Belén ^g   Pérez, Belén ^h   Serrano, Mercedes ^a,c,d  

^a HOSPITAL SANT JOAN DE DÉU   (Spain)

^b Quintiles   (Spain)

^c Institut de Recerca Sant Joan de Deu   (Spain)

^d CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^e Mercedes Benz rDNA   (United States)

^f HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^g UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^h UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

Author keywords

automated facial analysis software; cerebellar disorders; congenital disorders of glycosylation; dysmorphology; phosphomannomutase

Indexed keywords

PHOSPHOMANNOMUTASE; PHOSPHOMANNOMUTASE 2; UNCLASSIFIED DRUG; MUTASE;

ADOLESCENT; ADULT; ALGORITHM; ARTICLE; BODY DYSMORPHIC DISORDER; CEREBELLUM ATROPHY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; CONGENITAL DISORDER OF GLYCOSYLATION; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE SEVERITY; EARLY DIAGNOSIS; FACE DYSMORPHIA; FACIAL RECOGNITION; FEMALE; GENOTYPE PHENOTYPE CORRELATION; HAPPY PUPPET SYNDROME; HUMAN; IMAGE ANALYSIS; INTERNATIONAL COOPERATIVE ATAXIA RATING SCALE; JOINT LAXITY; LIPODYSTROPHY; LONG PHILTRUM; MALE; MOUTH MALFORMATION; NEUROIMAGING; NEUROLOGIC EXAMINATION; NIJMEGEN PEDIATRIC CDG RATING SCALE; NIPPLE MALFORMATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OBSERVATIONAL STUDY; PHENOTYPE; PREDICTIVE VALUE; PRINCIPAL COMPONENT ANALYSIS; PRIORITY JOURNAL; PROGNOSIS; RATING SCALE; RECEIVER OPERATING CHARACTERISTIC; SOFTWARE; STATISTICAL SIGNIFICANCE; STRABISMUS; TERATOLOGY; UPWARD PALPEBRAL SLANT; YOUNG ADULT; FACIES; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; PRESCHOOL CHILD; SPAIN;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CONGENITAL DISORDERS OF GLYCOSYLATION; FACIES; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; MALE; PHENOTYPE; PHOSPHOTRANSFERASES (PHOSPHOMUTASES); ROC CURVE; SPAIN; YOUNG ADULT;

EID: 85057133205     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2018-105588     Document Type: Article

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