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Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are rare, autosomal recessive disorders of the connective tissue caused by mutations in the gene encoding the anthrax toxin receptor 2 protein (ANTXR2) located on chromosome 4q21. Characteristically, these conditions...
Mutations in the MID1 gene result in X‐linked Opitz G/BBB syndrome (OS), a disorder that affects development of midline structures and comprises hypertelorism, cleft lip/palate, hypospadias, and laryngo‐tracheo‐esophageal abnormalities, and, at times, neurological, anal, and cardiac...
We performed a genome wide association analysis of maternally‐mediated genetic effects and parent‐of‐origin (POO) effects on risk of orofacial clefting (OC) using over 2,000 case‐parent triads collected through an international cleft consortium. We used log‐linear regression models to...
Bohring–Opitz syndrome (BOS) is a rare condition characterized by facial anomalies, multiple malformations, failure to thrive and severe intellectual disabilities. Recently, the cause was identified on the basis of de novo heterozygous mutations in the ASXL1 gene. We report on two novel cases...
Recurrent copy number variants (CNVs) are found in a significant proportion of patients with congenital heart disease (CHD) and some of these CNVs are associated with other developmental defects. In some syndromic patients, CHD may be the first presenting symptom, thus screening of patients with...
Cryptic subtelomeric chromosomal aberrations are responsible for 5–10% of moderate/severe and 1% of mild intellectual disability. Unbalanced subtelomeric chromosomal rearrangements result in variable phenotypes which seem to be highly influenced by both the size of the duplication/deletion and...
We here report on a 20‐year‐old female patient with EDS due to a homozygous CHST14 single nucleotide deletion resulting in D4ST‐1 deficiency, accompanied by muscle hypoplasia and muscle weakness. Findings of muscle ultrasound, electromyography, and muscle biopsy pointed to a myopathy,...
The aim of this study was to investigate, in a clinical setting, the auditory function of a group of individuals affected by Williams syndrome (WS). Sixty‐nine patients with WS, aged 2–30, underwent comprehensive audiological testing including air/bone conduction behavioral audiometry, speech...
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