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A NEONATE PRESENTING WITH GRACILE SYNDROME AND BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION.
Genet Couns. 2016; 27(4):509-512.GC

Abstract

GRACILE Syndrome, is an autosomal recessive disease presenting with growth retardation, severe lactic acidosis, Fanconi type tubulopathy, cholestasis, iron overload and early death without any dysmorphological or neurological features. The BCSIL gene mutation is responsible for GRACILE syndrome, Bjornstad syndrome and complex III deficiency. Bjomstad syndrome is characterized by sensorineural hearing loss and abnormal flat twisted hair shafts. The case is GRACILE syndrome with Bjomstad phenotype in neonatal period due to BCSL1 gene mutation.

Authors

Akduman H
No affiliation info available
Eminoglu T
No affiliation info available
Okulu E
No affiliation info available
Erdeve O
No affiliation info available
Atasay B
No affiliation info available
Arsan S
No affiliation info available

MeSH

ATPases Associated with Diverse Cellular ActivitiesAcidosisAcidosis, LacticCholestasisConsanguinityDNA Mutational AnalysisElectron Transport Complex IIIFatal OutcomeFetal Growth RetardationHair DiseasesHearing Loss, SensorineuralHemosiderosisHomozygoteHumansInfantInfant, NewbornMaleMetabolism, Inborn ErrorsMitochondrial DiseasesPhenotypeRenal AminoaciduriasTurkey

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

30226971

Citation

Akduman, H, et al. "A NEONATE PRESENTING WITH GRACILE SYNDROME and BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION." Genetic Counseling (Geneva, Switzerland), vol. 27, no. 4, 2016, pp. 509-512.
Akduman H, Eminoglu T, Okulu E, et al. A NEONATE PRESENTING WITH GRACILE SYNDROME AND BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION. Genet Couns. 2016;27(4):509-512.
Akduman, H., Eminoglu, T., Okulu, E., Erdeve, O., Atasay, B., & Arsan, S. (2016). A NEONATE PRESENTING WITH GRACILE SYNDROME AND BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION. Genetic Counseling (Geneva, Switzerland), 27(4), 509-512.
Akduman H, et al. A NEONATE PRESENTING WITH GRACILE SYNDROME and BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION. Genet Couns. 2016;27(4):509-512. PubMed PMID: 30226971.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A NEONATE PRESENTING WITH GRACILE SYNDROME AND BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION. AU - Akduman,H, AU - Eminoglu,T, AU - Okulu,E, AU - Erdeve,O, AU - Atasay,B, AU - Arsan,S, PY - 2018/9/19/entrez PY - 2016/1/1/pubmed PY - 2016/1/1/medline SP - 509 EP - 512 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 27 IS - 4 N2 - GRACILE Syndrome, is an autosomal recessive disease presenting with growth retardation, severe lactic acidosis, Fanconi type tubulopathy, cholestasis, iron overload and early death without any dysmorphological or neurological features. The BCSIL gene mutation is responsible for GRACILE syndrome, Bjornstad syndrome and complex III deficiency. Bjomstad syndrome is characterized by sensorineural hearing loss and abnormal flat twisted hair shafts. The case is GRACILE syndrome with Bjomstad phenotype in neonatal period due to BCSL1 gene mutation. SN - 1015-8146 UR - https://wwww.unboundmedicine.com/medline/citation/30226971/A_NEONATE_PRESENTING_WITH_GRACILE_SYNDROME_AND_BJORNSTAD_PHENOTYPE_ASSOCIATED_WITH_BCS1L_MUTATION_ DB - PRIME DP - Unbound Medicine ER -