Coffin-Siris syndrome

Known as: CSS, FIFTH DIGIT SYNDROME, coffin siris syndrome 
A rare genetic disorder with an undetermined pattern of inheritance affecting mostly females. Clinical signs at birth include recurrent respiratory… (More)
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
Coffin-Siris syndrome (CSS) is a congenital disorder characterized by growth deficiency, intellectual disability, microcephaly… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
Highly Cited
2012
Highly Cited
2012
By exome sequencing, we found de novo SMARCB1 mutations in two of five individuals with typical Coffin-Siris syndrome (CSS), a… (More)
Is this relevant?
Highly Cited
2012
Highly Cited
2012
We identified de novo truncating mutations in ARID1B in three individuals with Coffin-Siris syndrome (CSS) by exome sequencing… (More)
  • figure 1
  • table 1
Is this relevant?
2001
2001
We describe a five-month-old male infant with Coffin-Siris syndrome, the so-called Dandy-Walker variant (hypoplasia of the… (More)
Is this relevant?
Highly Cited
2000
Highly Cited
2000
We prove that the 1984 protocol of Bennett and Brassard (BB84) for quantum key distribution is secure. We first give a key… (More)
Is this relevant?
Review
1991
Review
1991
Most affected individuals have mild to severe intellectual disability or delayed development of speech and motor skills such as… (More)
Is this relevant?
Highly Cited
1990
Highly Cited
1990
Criteria for the classification of Churg-Strauss syndrome (CSS) were developed by comparing 20 patients who had this diagnosis… (More)
Is this relevant?
1986
1986
Most affected individuals have mild to severe intellectual disability or delayed development of speech and motor skills such as… (More)
Is this relevant?
1985
1985
We studied the neuropathologic features of a patient with Coffin-Siris syndrome. Two previously reported cases showed Dandy… (More)
Is this relevant?
Review
1981
Review
1981
Four additional cases of the Coffin-Siris syndrome bring the number of reported cases to 16. This disorder is characterized by… (More)
  • table 1
  • figure 1
  • figure 2
Is this relevant?