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Volumn 17, Issue 3, 2008, Pages 161-164
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A familial dysmorphic condition with hypotonia, seizures and precocious puberty
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Author keywords
Dysmorphic features; Hypotonia; Mental retardation; Precocious puberty
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Indexed keywords
ANTICONVULSIVE AGENT;
ARTICLE;
AUTOSOMAL RECESSIVE INHERITANCE;
BIRTH WEIGHT;
BRACHYCEPHALY;
CASE REPORT;
CHILD;
COMPARATIVE GENOMIC HYBRIDIZATION;
ELECTROENCEPHALOGRAPHY;
FACE DYSMORPHIA;
FEMALE;
FOCAL EPILEPSY;
GRAND MAL SEIZURE;
HUMAN;
JAUNDICE;
MALE;
MUSCLE HYPOTONIA;
NEWBORN;
PHENOTYPE;
PRECOCIOUS PUBERTY;
PRESCHOOL CHILD;
PRIORITY JOURNAL;
SCHOOL CHILD;
SEIZURE;
TERATOLOGY;
TONIC CLONIC SEIZURE;
CRANIOFACIAL MALFORMATION;
EPILEPSY;
FAMILY HEALTH;
FATALITY;
GENETICS;
GENOMICS;
MENTAL DEFICIENCY;
MULTIPLE MALFORMATION SYNDROME;
NUCLEAR MAGNETIC RESONANCE IMAGING;
PATHOLOGY;
RECESSIVE GENE;
ABNORMALITIES, MULTIPLE;
CHILD;
CHILD, PRESCHOOL;
CRANIOFACIAL ABNORMALITIES;
EPILEPSY;
FAMILY HEALTH;
FATAL OUTCOME;
FEMALE;
GENES, RECESSIVE;
GENOMICS;
HUMANS;
MAGNETIC RESONANCE IMAGING;
MALE;
MENTAL RETARDATION;
MUSCLE HYPOTONIA;
PHENOTYPE;
PUBERTY, PRECOCIOUS;
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EID: 51449092671
PISSN: 09628827
EISSN: None
Source Type: Journal
DOI: 10.1097/MCD.0b013e328302f0c4 Document Type: Article |
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Times cited : (6)
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References (0)
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