A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima

Koehler, Katrin; Milev, Miroslav; Prematilake, Keshika; Reschke, Felix; Kutzner, Susann; Juehlen, Ramona; Landgraf, Dana; Utine, GÜLEN; Hazan, Filiz; Diniz, Gulden; Schuelke, Markus; Huebner, Angela; Sacher, Michael

doi:10.1136/jmedgenet-2016-104108

A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima

Koehler K., Milev M. P., Prematilake K., Reschke F., Kutzner S., Juehlen R., ...Daha Fazla

JOURNAL OF MEDICAL GENETICS, cilt.54, sa.3, ss.176-185, 2017 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 54 Sayı: 3
Basım Tarihi: 2017
Doi Numarası: 10.1136/jmedgenet-2016-104108
Dergi Adı: JOURNAL OF MEDICAL GENETICS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.176-185
Hacettepe Üniversitesi Adresli: Evet

Özet

Background Triple A syndrome (MIM # 231550) is associated with mutations in the AAAS gene. However, about 30% of patients with triple A syndrome symptoms but an unresolved diagnosis do not harbour mutations in AAAS. Objective Search for novel genetic defects in families with a triple A-like phenotype in whom AAAS mutations are not detected.