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marshall-smith syndrome (40) 40
humans (29) 29
genetics & heredity (22) 22
female (19) 19
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syndrome (18) 18
accelerated skeletal maturation (17) 17
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infant (9) 9
marshall–smith syndrome (9) 9
nfi transcription factors - genetics (9) 9
abnormalities, multiple - genetics (8) 8
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face - abnormalities (8) 8
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weaver syndrome (8) 8
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abnormalities, multiple (6) 6
bone diseases, developmental - genetics (6) 6
craniofacial abnormalities - genetics (6) 6
infancy (6) 6
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abnormalities, multiple - diagnosis (5) 5
adult (5) 5
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craniofacial abnormalities - diagnosis (5) 5
craniofacial abnormalities - pathology (5) 5
intellectual disability (5) 5
marshall‐smith syndrome (5) 5
mutation (5) 5
overgrowth syndrome (5) 5
septo-optic dysplasia - diagnosis (5) 5
septo-optic dysplasia - genetics (5) 5
sotos-like (5) 5
surgery (5) 5
advanced skeletal maturation (4) 4
bone diseases, developmental - diagnostic imaging (4) 4
facies (4) 4
failure to thrive (4) 4
gene mutations (4) 4
genetic aspects (4) 4
genetic disorders (4) 4
malan syndrome (4) 4
sotos-like overgrowth (4) 4
survival (4) 4
young adult (4) 4
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bone and bones - abnormalities (3) 3
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nfix gene (3) 3
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proteins (3) 3
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wiki (3) 3
abnormalities (2) 2
abnormalities, multiple - diagnostic imaging (2) 2
adi-r (2) 2
age determination by skeleton (2) 2
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Journal Article
Human mutation, ISSN 1059-7794, 2018, Volume 39, Issue 9, pp. 1226 - 1237
Journal Article
Human mutation, ISSN 1059-7794, 2014, Volume 35, Issue 9, pp. 1092 - 1100
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2018, Volume 176, Issue 12, pp. 2896 - 2900
Malan syndrome and Marshall–Smith syndrome (MSS) are allelic disorders caused by mutation in NFIX gene. We report a 3‐year‐ 6 months‐ old female with clinical... 
Marshall–Smith syndrome | Malan syndrome | missense mutation | NFIX gene | MARSHALL-SMITH-SYNDROME | SOTOS-LIKE OVERGROWTH | NFIX | SEQUENCE VARIANTS | DNA-BINDING/DIMERIZATION DOMAIN | Marshall-Smith syndrome | GENE | GENETICS & HEREDITY | MUTATIONS | DELETIONS | Radiography | Phenotypes | Mutation | Nfix gene | Genotypes
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2015, Volume 58, Issue 9, pp. 488 - 491
Journal Article
by Zhu, M.R and Liu, P.P and Liu, X.F and Wu, H
Hong Kong Journal of Paediatrics, ISSN 1013-9923, 07/2018, Volume 23, Issue 3, pp. 246 - 249
Marshall-Smith syndrome (MSS) is a malformation disorder that is characterised by accelerated bone maturation, developmental delay and facial deformation. The... 
Marshall-Smith syndrome | PEDIATRICS
Journal Article
Journal Article
Journal of Pediatric Genetics, ISSN 2146-4596, 09/2015, Volume 4, Issue 3, pp. 136 - 143
Abstract Numerous multiple malformation syndromes associated with pathologic overgrowth have been described and, for many, their molecular bases elucidated.... 
Review Article | Proteus | PI3K-related | Bannayan–Riley–Ruvalcaba | Marshall–Smith | overgrowth syndrome | Sotos | Review | Simpson–Golabi–Behmel | Beckwith–Wiedemann | Perlman | Malan
Journal Article
Journal of Plastic, Reconstructive & Aesthetic Surgery, ISSN 1748-6815, 2010, Volume 63, Issue 8, pp. e611 - e614
Journal Article
Journal of intellectual disability research, ISSN 0964-2633, 2011, Volume 55, Issue 10, pp. 973 - 987
Marshall-Smith syndrome (MSS) is an infrequently described entity characterised by failure to thrive, developmental delay, abnormal bone maturation and a... 
behavioural phenotype | Marshall–Smith syndrome | cognition | autism | intellectual disability | Autism | Behavioural phenotype | Cognition | Intellectual disability | Marshall-Smith syndrome | MENTAL-RETARDATION | RETT-SYNDROME | ACCELERATED SKELETAL MATURATION | DIAGNOSTIC INTERVIEW | SPECTRUM DISORDERS | SOCIAL COGNITION | NATURAL-HISTORY | EDUCATION, SPECIAL | CHILDREN | ADI-R | REHABILITATION | PATIENT | Psychomotor Skills | Interaction | Mental Retardation | Severity (of Disability) | Genetic Disorders | Cognitive Development | Speech Impairments | Motor Development | Communication Skills | Developmental Delays | Child Behavior | Behavior Problems | Imagination | Questionnaires | Physical Disabilities | Child Development | Children | Interviews | Antisocial Behavior | Prognosis | Septo-Optic Dysplasia - diagnosis | Humans | Child, Preschool | Male | Developmental Disabilities - genetics | Bone Diseases, Developmental - genetics | Craniofacial Abnormalities - psychology | NFI Transcription Factors - genetics | Intellectual Disability - genetics | Septo-Optic Dysplasia - genetics | DNA Mutational Analysis | Female | Autistic Disorder - diagnosis | Bone Diseases, Developmental - diagnosis | Child | Developmental Disabilities - diagnosis | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Communication | Autistic Disorder - genetics | Child Behavior Disorders - psychology | Child Behavior Disorders - diagnosis | Personality Assessment | Abnormalities, Multiple - psychology | Autistic Disorder - psychology | Bone Diseases, Developmental - psychology | Neuropsychological Tests | Septo-Optic Dysplasia - psychology | Phenotype | Neurologic Examination | Craniofacial Abnormalities - diagnosis | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Adolescent | Intellectual Disability - psychology | Child Behavior Disorders - genetics | Adaptation, Psychological | Developmental Disabilities - psychology | Medical colleges | Medical research | Molecular genetics | Medicine, Experimental | Genetic aspects | Social aspects | Public health | Musculoskeletal diseases | Genotype & phenotype | Behavior | Cognition & reasoning | Social interaction
Journal Article