A novel GJC2 mutation associated with hypomyelination and Müllerian agenesis syndrome: Coincidence or a new entity?

Neuropediatrics

Volumn 43, Issue 3, 2012, Pages 159-161

  Yalcinkaya, Cengiz ^a   Erturk, Ozdem ^a   Tuysuz, Beyhan ^a   Yesil, Gozde ^a   Verbeke, Jonathan I M L ^b   Keyser, Britta ^c   Stuhrmann, Manfred ^c   Steinemann, Doris ^c   Sistermans, Erik A ^b   Van Der Knaap, Marjo S ^b  

^a ISTANBUL UNIVERSITY   (Turkey)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

Hypomyelination; M llerian agenesis; Pelizaeus Merzbacher like disease

Indexed keywords

ANDROSTENEDIONE; CONNEXIN 47; ESTRADIOL; FOLLITROPIN; GLUTAMINE; LUTEINIZING HORMONE; N ACETYLASPARTIC ACID; PROGESTERONE; TESTOSTERONE; VALINE; WNT4 PROTEIN;

ADULT; AGENESIS; ANDROSTENEDIONE BLOOD LEVEL; ARTICLE; BABINSKI REFLEX; CASE REPORT; CEREBELLUM ATROPHY; CHROMOSOME ANALYSIS; COGNITION; DEMYELINATING DISEASE; DYSARTHRIA; ECHOGRAPHY; ELECTROENCEPHALOGRAM; EPILEPSY; ESTRADIOL BLOOD LEVEL; FEMALE; FOLLITROPIN BLOOD LEVEL; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; HOMOZYGOSITY; HUMAN; HYPOMYELINATION; KARYOTYPE; LUTEINIZING HORMONE BLOOD LEVEL; MISSENSE MUTATION; MULLERIAN AGENESIS SYNDROME; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PRIORITY JOURNAL; PROGESTERONE BLOOD LEVEL; QUADRIPLEGIA; TENDON REFLEX; TESTOSTERONE BLOOD LEVEL; WHITE MATTER;

ADOLESCENT; BRAIN; CONNEXINS; DEMYELINATING DISEASES; FEMALE; HUMANS; MULLERIAN DUCTS; MUTATION; PELIZAEUS-MERZBACHER DISEASE; PELVIS; SYNDROME;

EID: 84862752981     PISSN: 0174304X     EISSN: 14391899     Source Type: Journal    
DOI: 10.1055/s-0032-1313912     Document Type: Article

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