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Xp22.2

A chromosome band present on Xp
National Institutes of Health

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BMX wt AlleleChromosomesFANCB wt AlleleGRPR wt Allele

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
A familial case of Coffin-Lowry syndrome caused by RPS6KA3 C.898C>T mutation associated with multiple abnormal brain imaging findings.
Coffin-Lowry syndrome (CLS) is a rare X linked mental retardation syndrome characterised by severe psychomotor and growth… 
2013
2013
Copy number variation findings among 50 children and adolescents with autism spectrum disorder
Objectives Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopment disorders with a complex genetic… 
2005
2005
Treatment of drop episodes in Coffin–Lowry syndrome
Sirs: Coffin-Lowry syndrome (CLS) is a rare X-linked disorder in which affected males have learning disability and characteristic… 
2004
2004
Mutation analysis of the M6b gene in patients with Pelizaeus–Merzbacher‐like syndrome
“Pelizaeus–Merzbacher‐like syndrome” is an undetermined leukodystrophy disorder of diffuse hypomyelination. The patients… 
2002
2002
Detection of microdeletions in the short arm of the X chromosome by chromosome stretching
The present study was focused on the resolution of “chromosome stretching”. In order to determine if this method can be used for… 
2001
2001
The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site.
2001
2001
Localization of non-specific X-linked mental retardation gene (MRX73) to Xp22.2.
Clinical and molecular studies are reported on a family (MRX73) of five males with non-specific X-linked mental retardation (XLMR… 
Review
1998
Review
1998
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man.
The syndrome of ichthyosis follicularis, alopecia, and photophobia (IFAP) is an uncommon neuroichthyosis described in only 10… 
1998
1998
Analysis of the genomic structure of the human glycine receptor alpha2 subunit gene and exclusion of this gene as a candidate for Rett syndrome.
The gene that encodes the human alpha2 subunit of the inhibitory glycine receptor (GLRA2) is located on the X chromosome (Xp22.2… 
1991
1991
Linear skin defects and congenital microphthalmia: a new syndrome at Xp22.2.
The report of Lakshminarayana and Nallasivam' concerning a patient with ring chromosome 3 and Cornelia de Lange syndrome recalls… 
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