Psychomotor retardation caused by a defective thyroid hormone transporter: Report of two families with different MCT8 mutations

Hormone Research in Paediatrics

Volumn 82, Issue 4, 2014, Pages 261-271

  Anik, Ahmet ^a   Kersseboom, Simone ^b   Demir, Korcan ^a   Çatli, Gönül ^a   Yiş, Uluç ^a   Böber, Ece ^a   Van Mullem, Alies ^b   Van Herebeek, Ramona E A ^b   Hiz, Semra ^a   Abaci, Ayhan ^a   Visser, Theo J ^b  

^a DOKUZ EYLUL UNIVERSITY   (Turkey)

^b ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Allan herndon dudley syndrome; Brain development; Monocarboxylate transporter 8; Psychomotor retardation; Thyroid hormone

Indexed keywords

GENOMIC DNA; LIOTHYRONINE; MONOCARBOXYLATE TRANSPORTER 8; THYROTROPIN; THYROXINE; MONOCARBOXYLATE TRANSPORTER; SLC16A2 PROTEIN, HUMAN; THYROID HORMONE;

ALLAN HERNDON DUDLEY SYNDROME; ARTICLE; ATAXIA; BIRTH WEIGHT; BODY HEIGHT; BODY WEIGHT; BONE AGE; BRAIN ATROPHY; CASE REPORT; CHILD; COGNITIVE DEFECT; CONTRACTURE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; EPILEPSY; EXON; FACIAL EXPRESSION; FUNNEL CHEST; GENE; GENE DELETION; GENETIC ANALYSIS; HEAD CIRCUMFERENCE; HORMONE TRANSPORT; HUMAN; HYPERREFLEXIA; HYPOACTIVITY; INTRON; LIOTHYRONINE BLOOD LEVEL; MALE; MCT8 GENE; MICROCEPHALY; MISSENSE MUTATION; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; MUSCLE MASS; MUSCLE TONE; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; NERVE CELL DIFFERENTIATION; NYSTAGMUS; ORCHIDOPEXY; PEDIGREE ANALYSIS; PHENOTYPE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PSYCHOMOTOR RETARDATION; SCHOOL CHILD; SCOLIOSIS; SEIZURE; SOCIAL INTERACTION; SPASTICITY; SPEECH DISORDER; TENDON REFLEX; THYROID FUNCTION TEST; THYROTROPIN BLOOD LEVEL; THYROXINE BLOOD LEVEL; TREMOR; BLOOD; GENETICS; INFANT; INTELLECTUAL DISABILITY; METABOLISM; MUSCLE ATROPHY; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PSYCHOLOGY; X LINKED MENTAL RETARDATION;

CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; GENE DELETION; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; MENTAL RETARDATION, X-LINKED; MONOCARBOXYLIC ACID TRANSPORTERS; MUSCLE HYPOTONIA; MUSCULAR ATROPHY; MUTATION; MUTATION, MISSENSE; PEDIGREE; THYROID HORMONES;

EID: 84911991919     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000365191     Document Type: Article

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