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DERMATOLOGIC CLINICS, ISSN 0733-8635, 10/2019, Volume 37, Issue 4, pp. 537 - 537
It is important to recognize paraneoplastic dermatoses because they allow the practitioner to begin an early, directed workup to detect an underlying malignant... 
ACROKERATOSIS-PARANEOPLASTICA | Dermatology | Pemphigus | POLYMYOSITIS | Dermatomyositis | TRANSFORMING GROWTH-FACTOR | RISK | CANCER-ASSOCIATED DERMATOMYOSITIS | GLUCAGONOMA SYNDROME | Paraneoplastic | NECROLYTIC MIGRATORY ERYTHEMA | Sweet syndrome | ACQUIRED HYPERTRICHOSIS LANUGINOSA | ACANTHOSIS NIGRICANS MALIGNA
Journal Article
Pediatric Dermatology, ISSN 0736-8046, 11/2016, Volume 33, Issue 6, pp. e346 - e348
Superficial epidermolytic ichthyosis (SEI) is an autosomal dominant disorder caused by a mutation in the keratin 2 gene and clinically characterized by mild... 
PEDIATRICS | DERMATOLOGY | Hyperkeratosis, Epidermolytic - pathology | Humans | Hyperkeratosis, Epidermolytic - complications | Female | Hyperkeratosis, Epidermolytic - diagnosis | Infant | Hypertrichosis - etiology | Diagnosis | Ichthyosis
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2015, Volume 167, Issue 10, pp. 2231 - 2237
De novo mutations (DNM) in SYNGAP1, encoding Ras/Rap GTPase‐activating protein SynGAP, have been reported in individuals with nonsyndromic intellectual... 
epilepsy | hypertrichosis | SYNGAP1 | strabismus | syndrome | DDD study | 6p21.3 microdeletion | behavioral phenotype | hip dysplasia | intellectual disability | Intellectual disability | Strabismus | Hip dysplasia | Epilepsy | Behavioral phenotype | Hypertrichosis | Syndrome | AUTISM | GENE | GENETICS & HEREDITY | PATIENT | Constipation - genetics | Humans | Child, Preschool | Male | Epilepsies, Myoclonic - pathology | Gait Disorders, Neurologic - genetics | Strabismus - genetics | Intellectual Disability - genetics | Muscle Hypotonia - diagnosis | Hip Dislocation - pathology | ras GTPase-Activating Proteins - genetics | Constipation - diagnosis | DNA Mutational Analysis | Epilepsies, Myoclonic - diagnosis | Strabismus - pathology | Gait Disorders, Neurologic - pathology | Female | Child | Epilepsies, Myoclonic - genetics | Gene Expression | Muscle Hypotonia - genetics | Hip Dislocation - genetics | Intellectual Disability - pathology | Strabismus - diagnosis | Constipation - pathology | Twins, Monozygotic | Gait Disorders, Neurologic - diagnosis | Haploinsufficiency | Muscle Hypotonia - pathology | Phenotype | Intellectual Disability - diagnosis | Adolescent | Heterozygote | Hip Dislocation - diagnosis | Mutation | Sleep disorders | Dysplasia | Sleep | Genetic research | Genetic aspects | Seizures (Medicine) | Twins | Neuroimaging | Phenotypes | Aggressive behavior | Gait | Intellectual disabilities | Copy number | Gene deletion | Neurodevelopmental disorders | Hip | Magnetic resonance imaging | Clonal deletion | Nose | Bone dysplasia | Constipation | Seizures | Guanosinetriphosphatase | New Syndrome
Journal Article
Postgraduate Medical Journal, ISSN 0032-5473, 11/2018, Volume 94, Issue 1117, pp. 668 - 669
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2013, Volume 161, Issue 2, pp. 295 - 300
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2018, Volume 176, Issue 8, pp. 1753 - 1759
Journal Article
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