… , or a permissive duplication allele, is rare as these permissive alleles have a prevalence …
Smchd1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia …

… muscular dystrophy type 2 (FSHD2) and arhinia are 2 distinct … variants in SMCHD1 were
found to also cause a very rare yet … in epigenetic regulatory genes such as SMCHD1 in FSHD2. …

… This malformation can manifest as an isolated condition or … SMCHD1 have been found
to be common in FSHD2, a rare, … muscular dystrophy type 2 (FSHD2) and Bosma arhinia …

… ) is a rare autosomal dominant disorder caused by heterozygous variation in the SMCHD1
gene on … It can occur in isolated form or be associated with syndromes, such as Bosma …

… rare genetic diseases, we first seek at identifying genes dysregulated in primary cells from
patients carrying a mutation in SMCHD1 … expression of genes related to development and cell …

… In this work, we show that in arhinia, SMCHD1 missense mutations confer an overall loss of
… The control iPSC demonstrated the expected expression pattern of genes associated with …

… arhinia and facioscapulohumeral muscular dystrophy type 2 (… mutations in SMCHD1
identified in patients with arhinia or … missense SMCHD1 mutations associated with arhinia may …

… included the genes associated with features of the patient. The … Facioscapulohumeral muscular
dystrophy type 2 (FSHD2) … is a very rare pathology, caused by mutations of the SMCHD1 …

… the causative gene in facioscapulohumeral muscular dystrophy Type 2 (FSHD2) and …
undescribed missense mutation in the SMCHD1 gene. Congenital arhinia is a rare condition that …

… that SMCHD1 is an important genetic determinant for this rare … signs or symptoms of muscular
dystrophy in this study. … could be associated with this variant and whether isolated anosmia …