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2010, 3rd ed., ISBN 0470191414, xxii, 962
"It is imperative for primary care providers and genetic practitioners to have access to appropriate management guidelines for the diagnosis, genetic... 
Abnormalities, Multiple | Genetic Diseases, Inborn | diagnosis | Genetic disorders | therapy | Abnormalities, Multiple - therapy | Abnormalities, Multiple - diagnosis | Genetic Diseases, Inborn - therapy | Variation | Genetic Diseases, Inborn - diagnosis | Human genetics | Diseases
Book
Journal Article
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2011, Volume 6, Issue 1, pp. 56 - 56
VACTERL/VATER association is typically defined by the presence of at least three of the following congenital malformations: vertebral defects, anal atresia,... 
RESPIRATORY-CHAIN DEFICIENCY | MEDICINE, RESEARCH & EXPERIMENTAL | MULTIPLE CONGENITAL-ANOMALIES | GENOTYPE-PHENOTYPE CORRELATIONS | PRENATAL SONOGRAPHIC DIAGNOSIS | VATER-ASSOCIATION | TOWNES-BROCKS-SYNDROME | ACID RECEPTORS RARS | GENETICS & HEREDITY | PALLISTER-HALL-SYNDROME | RIGHT PULMONARY AGENESIS | HOLT-ORAM-SYNDROME | Abnormalities, Multiple - pathology | Limb Deformities, Congenital - genetics | Radius - pathology | Kidney - pathology | Humans | Male | Tracheoesophageal Fistula - complications | Anus, Imperforate - pathology | Spine - abnormalities | Heart Defects, Congenital - genetics | Abnormalities, Multiple - epidemiology | Female | Spine - pathology | Anal Canal - pathology | Abnormalities, Multiple - genetics | Anus, Imperforate - diagnosis | Infant, Newborn | Trachea - abnormalities | Tracheoesophageal Fistula - epidemiology | Anus, Imperforate - complications | Heart Defects, Congenital - pathology | Radius - abnormalities | Esophagus - abnormalities | Anal Canal - abnormalities | Trachea - pathology | Limb Deformities, Congenital - diagnosis | Esophagus - pathology | Heart Defects, Congenital - complications | Kidney - abnormalities | Limb Deformities, Congenital - epidemiology | Abnormalities, Multiple - diagnosis | Anus, Imperforate - genetics | Tracheoesophageal Fistula - genetics | Heart Defects, Congenital - epidemiology | Heart Defects, Congenital - diagnosis | Limb Deformities, Congenital - complications | Anus, Imperforate - epidemiology | Limb Deformities, Congenital - pathology | Care and treatment | Genetic aspects | Prognosis | Diagnosis | VATER syndrome
Journal Article
Genetics in Medicine, ISSN 1098-3600, 07/2011, Volume 13, Issue 7, pp. 680 - 685
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 03/2015, Volume 169, Issue 1, pp. 6 - 22
Joint hypermobility syndrome/Ehlers–Danlos syndrome hypermobility type (JHS/EDS‐HT) is an evolving and protean disorder mostly recognized by generalized joint... 
heritable connective tissue disorders | differential diagnosis | joint hypermobility syndrome | diagnostic flow chart | Ehlers–Danlos syndrome hypermobility type | Joint hypermobility syndrome | Diagnostic flow chart | Differential diagnosis | Ehlers-Danlos syndrome hypermobility type | Heritable connective tissue disorders | DE-NOVO MUTATION | FORM | MARFAN | THORACIC AORTIC-ANEURYSM | NATURAL-HISTORY | CLINICAL FINDINGS | GENETICS & HEREDITY | COMPOUND HETEROZYGOUS MUTATIONS | ARTERIAL-TORTUOSITY-SYNDROME | SYNDROME TYPE-IV | PEPTIDE DOMAIN | Osteogenesis Imperfecta - diagnosis | Humans | Marfan Syndrome - physiopathology | Skin Abnormalities - diagnosis | Ehlers-Danlos Syndrome - physiopathology | Skin Diseases, Genetic - diagnosis | Osteogenesis Imperfecta - physiopathology | Surveys and Questionnaires | Connective Tissue Diseases - physiopathology | Skin Abnormalities - physiopathology | Meningocele - physiopathology | Diagnosis, Differential | Joint Instability - diagnosis | Connective Tissue Diseases - diagnosis | Loeys-Dietz Syndrome - diagnosis | Loeys-Dietz Syndrome - physiopathology | Abnormalities, Multiple - physiopathology | Skin Diseases, Genetic - physiopathology | Abnormalities, Multiple - diagnosis | Arteries - physiopathology | Marfan Syndrome - diagnosis | Vascular Malformations - diagnosis | Ehlers-Danlos Syndrome - diagnosis | Joint Instability - physiopathology | Meningocele - diagnosis | Vascular Malformations - physiopathology | Arteries - abnormalities | Comparative analysis | Medical genetics
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