Add to ORKGCoffin-Lowry syndrome (CLS) is an X-linked disorder, which affects hemizygous males more severely than females. It is characterized by mental retardation, short stature, head and facial abnormalities, skeletal anomalies and developmental delays. The signs and symptoms vary in different people. We report a 14-year-old male patient, diagnosed with CLS based on his clinical features. Genetic testing revealed a de novo mutation in ribosomal protein S6 kinase alpha-3 (RPS6KA3) gene (c.2185C>T; p. Arg729Trp). This is the first molecularly confirmed case report of a patient with CLS from Iran
Mutation of RPS6KA3 can induce Coffin–Lowry syndrome, an X-linked syndrome. The case here reported m...
The Coffin-Lowry syndrome (CLS) is an X-linked inherited disease of unknown pathogenesis characteriz...
Background: Coffin–Lowry syndrome (CLS) is a syndromic form of X-linked intellectual disability, in ...
Coffin-Lowry syndrome (CLS, OMIM 303600) is an X-linked inherited disorder characterised in male pat...
Coffin-Lowry syndrome (CLS) is a syndromal form of X linked mental retardation, in which some associ...
Coffin-Lowry syndrome (CLS) is a rare X-linked disorder that, usually affects males, presenting with...
Coffin-Lowry syndrome is expressed as different phenotypes in males and females. In males, it is cha...
Here, we report on a patient with a 625 kb duplication in Xp22.12, detected by array comparative gen...
Coffin–Lowry syndrome (CLS) is a rare X‐linked disorder characterized by moderate to severe intellec...
Coffin-Lowry syndrome (CLS) is a syndromic form of X-linked mental retardation that is characterized...
SummaryCoffin-Lowry syndrome (CLS) is an X-linked disorder characterized by severe psychomotor retar...
We present three patients with the Coffin-Lowry syndrome, two males aged 21 years and 14 months resp...
Abstract: Background: Coffin–Lowry syndrome (CLS) is a syndromic form of X-linked intellectual disa...
Two novel mutations of the ribosomal S6 kinase 2 gene (also known as RSK2) have been identified in t...
7Background: Coffin–Lowry syndrome (CLS) is a syndromic form of X-linked intellectual disability, in...
Mutation of RPS6KA3 can induce Coffin–Lowry syndrome, an X-linked syndrome. The case here reported m...
The Coffin-Lowry syndrome (CLS) is an X-linked inherited disease of unknown pathogenesis characteriz...
Background: Coffin–Lowry syndrome (CLS) is a syndromic form of X-linked intellectual disability, in ...
Coffin-Lowry syndrome (CLS, OMIM 303600) is an X-linked inherited disorder characterised in male pat...
Coffin-Lowry syndrome (CLS) is a syndromal form of X linked mental retardation, in which some associ...
Coffin-Lowry syndrome (CLS) is a rare X-linked disorder that, usually affects males, presenting with...
Coffin-Lowry syndrome is expressed as different phenotypes in males and females. In males, it is cha...
Here, we report on a patient with a 625 kb duplication in Xp22.12, detected by array comparative gen...
Coffin–Lowry syndrome (CLS) is a rare X‐linked disorder characterized by moderate to severe intellec...
Coffin-Lowry syndrome (CLS) is a syndromic form of X-linked mental retardation that is characterized...
SummaryCoffin-Lowry syndrome (CLS) is an X-linked disorder characterized by severe psychomotor retar...
We present three patients with the Coffin-Lowry syndrome, two males aged 21 years and 14 months resp...
Abstract: Background: Coffin–Lowry syndrome (CLS) is a syndromic form of X-linked intellectual disa...
Two novel mutations of the ribosomal S6 kinase 2 gene (also known as RSK2) have been identified in t...
7Background: Coffin–Lowry syndrome (CLS) is a syndromic form of X-linked intellectual disability, in...
Mutation of RPS6KA3 can induce Coffin–Lowry syndrome, an X-linked syndrome. The case here reported m...
The Coffin-Lowry syndrome (CLS) is an X-linked inherited disease of unknown pathogenesis characteriz...
Background: Coffin–Lowry syndrome (CLS) is a syndromic form of X-linked intellectual disability, in ...