Evidence Against RAB40AL Being the Locus for Martin-Probst X-Linked Deafness-Intellectual Disability Syndrome

Human Mutation

Volumn 35, Issue 10, 2014, Pages 1171-1174

  Ołdak, Monika ^a,b   Ściezyńska, Aneta ^a   Młynarski, Wojciech ^c   Borowiec, Maciej ^c   Ruszkowska, Ewelina ^a   Szulborski, Kamil ^a   Pollak, Agnieszka ^b   Kosińska, Joanna ^a   Mueller Malesińska, Małgorzata ^b   Stawiński, Piotr ^b   Szaflik, Jacek P ^a   Płoski, Rafał ^a,b  

^a MEDICAL UNIVERSITY OF WARSAW   (Poland)

^b INSTITUTE OF PHYSIOLOGY AND PATHOLOGY OF HEARING   (Poland)

^c MEDICAL UNIVERSITY OF LODZ   (Poland)

Author keywords

Deafness; Intellectual disability; Martin Probst syndrome; Nonpathogenic; RAB40AL; Whole exome sequencing

Indexed keywords

ALLELE; ARTICLE; CHILD; DNA SEQUENCE; EXOME; FAMILY; FEMALE; GENE LOCUS; GENETIC DISORDER; GENETIC VARIABILITY; HUMAN; IN VITRO STUDY; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MALE; MARTIN PROBST X LINKED DEAFNESS INTELLECTUAL DISABILITY SYNDROME; MISSENSE MUTATION; NEXT GENERATION SEQUENCING; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; SCREENING; X CHROMOSOME LINKED DISORDER; GENETIC SCREENING; GENETICS; MIDDLE AGED; MULTIPLE MALFORMATION SYNDROME; NEWBORN; PEDIGREE; PERCEPTION DEAFNESS; PHENOTYPE; POLAND;

MITOCHONDRIAL PROTEIN; RAS PROTEIN; RLGP PROTEIN, HUMAN;

ABNORMALITIES, MULTIPLE; CHILD; FEMALE; GENETIC DISEASES, X-LINKED; GENETIC TESTING; HEARING LOSS, SENSORINEURAL; HUMANS; INFANT, NEWBORN; INTELLECTUAL DISABILITY; MALE; MIDDLE AGED; MITOCHONDRIAL PROTEINS; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POLAND; RAS PROTEINS; SEQUENCE ANALYSIS, DNA;

EID: 84908890721     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22620     Document Type: Article

References (8)

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