Genetics of mayer–rokitansky–küster–hauser (MRKH) syndrome

L Fontana, B Gentilin, L Fedele, C Gervasini… - Clinical …, 2017 - Wiley Online Library
Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome, also referred to as Müllerian
agenesis, is the second most common cause of primary amenorrhea. It is characterized by …

[HTML][HTML] Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management

D Milani, FMP Manzoni, L Pezzani, P Ajmone… - Italian Journal of …, 2015 - Springer
Abstract Background Rubinstein-Taybi syndrome (RSTS) is an extremely rare autosomal
dominant genetic disease, with an estimated prevalence of one case per 125,000 live births …

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

A Musio, A Selicorni, ML Focarelli, C Gervasini… - Nature …, 2006 - nature.com
Cornelia de Lange syndrome is a multisystem developmental disorder characterized by
facial dysmorphisms, upper limb abnormalities, growth delay and cognitive retardation …

Ultra-rare syndromes: the example of Rubinstein–Taybi syndrome

S Spena, C Gervasini, D Milani - Journal of pediatric genetics, 2015 - thieme-connect.com
Rubinstein–Taybi syndrome (RSTS) is a rare, congenital, plurimalformative, and
neurodevelopmental disorder. Clinical diagnosis can be complicated by the heterogeneous …

[HTML][HTML] Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports

L Bernardini, S Gimelli, C Gervasini, M Carella… - Orphanet journal of rare …, 2009 - Springer
Abstract Background Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) consists of
congenital aplasia of the uterus and the upper part of vagina due to anomalous …

Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations

P Fergelot, M Van Belzen, J Van Gils… - American Journal of …, 2016 - Wiley Online Library
Rubinstein–Taybi syndrome (RSTS) is a developmental disorder characterized by a typical
face and distal limbs abnormalities, intellectual disability, and a vast number of other …

Phenotypes and genotypes in individuals with SMC1A variants

S Huisman, PA Mulder, E Redeker… - American journal of …, 2017 - Wiley Online Library
SMC1A encodes one of the proteins of the cohesin complex. SMC1A variants are known to
cause a phenotype resembling Cornelia de Lange syndrome (CdLS). Exome sequencing …

[PDF][PDF] Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

MA Levy, H McConkey, J Kerkhof… - Human Genetics and …, 2022 - cell.com
Overlapping clinical phenotypes and an expanding breadth and complexity of genomic
associations are a growing challenge in the diagnosis and clinical management of …

De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome‐Overlapping Phenotypes

MC Gil‐Rodríguez, MA Deardorff, M Ansari… - Human …, 2015 - Wiley Online Library
ABSTRACT Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism,
growth failure, intellectual disability, limb malformations, and multiple organ involvement …

Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

MA Levy, R Relator, H McConkey… - Human …, 2022 - Wiley Online Library
An expanding range of genetic syndromes are characterized by genome‐wide disruptions in
DNA methylation profiles referred to as episignatures. Episignatures are distinct, highly …