Infant Born With Autosomal Recessive Glycogen Storage Disease Type IV due to Complete Maternal Isodisomy of Chromosome 3. [PDF]
Case Rep GenetOlsen SS +6 more
europepmc +1 more source
Analysis of loss of heterozygosity and X chromosome inactivation in spleens with myeloproliferative disorders and acute myeloid leukemia [PDF]
, 2005 Dennis P. O’Malley +3 more
openalex +1 more source
Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2‐related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected.
Lottie D. Morison +3 more
wiley +1 more source
Genome Scan for Loci Predisposing to Anxiety Disorders Using a Novel Multivariate Approach: Strong Evidence for a Chromosome 4 Risk Locus [PDF]
, 2006 Belhassen Kâabi +5 more
openalex +1 more source
CLCN4‐Related Neurodevelopmental Condition: Characterization of Speech and Language Abilities
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Speech and language difficulties are a core feature of the CLCN4‐related neurodevelopmental condition, but these have not been well described. Here we systematically phenotype speech and language in 13 participants (10 female, aged 1 year 10 months–41 years 10 months) with pathogenic CLCN4 variants (12 missense de novo, 1 premature stop codon ...
Alexandra Garrett +4 more
wiley +1 more source
Evaluating pregnancy termination rates for fetal chromosome and single gene disorders. [PDF]
J Genet CounsHerman MJ +5 more
europepmc +1 more source
Paternal uniparental isodisomy of the entire chromosome 3 revealed in a person with no apparent phenotypic disorders [PDF]
, 2006 Peng Xiao +5 more
openalex +1 more source