Prenatal diagnosis of Coffin‐Siris syndrome: What are the fetal features?
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6213
Abstract: To present both our center's and previously reported experience of prenatal diagnosis of Coffin‐Siris syndrome (CSS) with regard to the laboratory testing and fetal features of this syndrome. read more here.
Keywords: diagnosis; siris syndrome; diagnosis coffin; fetal features ... See more keywords
Simple schwannomatosis or an incomplete Coffin-Siris? Report of a particular case
Sign Up to like & getrecommendations! Published in 2019 at "eNeurologicalSci"
DOI: 10.1016/j.ensci.2018.11.021
Abstract: Background Schwannomatosis is a genetic disorder that belongs to NF family. The mutation of SMARCB1 gene has been related to this entity and Coffin-Siris syndrome, as well. We reported a case of a female patient… read more here.
Keywords: case; coffin siris; coffin; siris syndrome ... See more keywords
Coffin-Siris Syndrome-1: Report of five cases from Asian populations with truncating mutations in the ARID1B gene
Sign Up to like & getrecommendations! Published in 2020 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2020.116819
Abstract: BACKGROUND Pathogenic variants of the ARID1B gene are recognized as the most common cause of Coffin-Siris syndrome (CSS) and also one of the most common causes for intellectual disability (ID). Reported ARID1B variants in association… read more here.
Keywords: report five; coffin siris; syndrome report; arid1b gene ... See more keywords
Anaplastic Astrocytoma in a Child With Coffin-Siris Syndrome and a Germline SMARCE1 Mutation: A Case Report
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Pediatric Hematology/Oncology"
DOI: 10.1097/mph.0000000000001361
Abstract: Coffin-Siris syndrome (CSS) is a rare congenital disorder with variable clinical phenotype consisting of developmental delay and characteristic facial features. It is caused by mutations in the chromatin remodeling switch/sucrose nonfermenting complex. Although SWI/SNF genes… read more here.
Keywords: anaplastic astrocytoma; coffin siris; smarce1; smarce1 mutation ... See more keywords
Pigmentation abnormalities in Coffin-Siris syndrome.
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DOI: 10.1111/cge.14356
Abstract: Pigmentary abnormalities in Coffin-Siris Syndrome should be considered as part of the wide phenotypical spectrum of this patients. read more here.
Keywords: siris syndrome; coffin siris; pigmentation abnormalities; abnormalities coffin ... See more keywords
G452(P) A complex case of cystic fibrosis and coffin-siris syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2018-rcpch.441
Abstract: We describe a 4-year-old girl with advanced Cystic Fibrosis (CF) and Coffin-Siris syndrome. Antenatally, there were concerns about Down Syndrome. She was born at term weighing 3388 g. Dysmorphic with micrognathia, broad nasal bridge, (P)iorly rotated… read more here.
Keywords: cystic fibrosis; coffin siris; siris syndrome; fibrosis coffin ... See more keywords
Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin–Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing
Sign Up to like & getrecommendations! Published in 2021 at "BMC Medical Genomics"
DOI: 10.1186/s12920-021-01119-2
Abstract: Background Coffin–Siris syndrome (CSS) is a multiple malformation syndrome characterized by intellectual disability associated with coarse facial features, hirsutism, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. CSS represents a small group… read more here.
Keywords: exome sequencing; cgh whole; coffin siris; siris syndrome ... See more keywords
Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2021.708348
Abstract: Chromoanagenesis is a descriptive term that encompasses classes of catastrophic mutagenic processes that generate localized and complex chromosome rearrangements in both somatic and germline genomes. Herein, we describe a 5-year-old female presenting with a constellation… read more here.
Keywords: single chromosome; chromoanagenesis event; coffin siris; siris syndrome ... See more keywords
Identification and functional analysis of novel SOX11 variants in Chinese patients with Coffin-Siris syndrome 9
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.940776
Abstract: SOX11 is a transcription factor belonging to the sex determining region Y-related high-mobility group box family that plays a vital role in early embryogenesis and neurogenesis. De novo variants in SOX11 have been initially reported… read more here.
Keywords: identification functional; siris syndrome; sox11 variants; variants sox11 ... See more keywords
Language Impairments in Individuals With Coffin-Siris Syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Neuroscience"
DOI: 10.3389/fnins.2021.802583
Abstract: Coffin-Siris syndrome (CSS, MIM 135900) is a now well-described, multiple congenital anomaly/intellectual disability syndrome classically characterized by fifth digit/nail hypoplasia, coarse facial features, and a range of organ-system related anomalies. Since its initial description in… read more here.
Keywords: siris syndrome; css; baf complex; coffin siris ... See more keywords
Multiple Developmental Defects in sox11a Mutant Zebrafish with Features of Coffin-Siris Syndrome
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Biological Sciences"
DOI: 10.7150/ijbs.47510
Abstract: A previous study suggested that human Coffin-Siris syndrome is related to the mutation of SOX11. Since the homozygous SOX11 mutant mice died soon after birth, no suitable model was available for the study of the… read more here.
Keywords: developmental defects; coffin siris; sox11am mutant; multiple developmental ... See more keywords