SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Here, we describe seven patients from two consanguineous Omani families with classic SOFT syndrome and a novel homozygous POC1A variant (c.64G>T; p.(Val22Phe)), which is the first one described for the alternative exon 2.
|
31767933 |
2020 |
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
This case highlights the importance of the accumulation of patients with POC1A mutations to further elucidate the detailed clinical features of SOFT syndrome.
|
30569574 |
2019 |
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Our findings confirm that POC1A mutations cause SOFT syndrome and that mutations in this gene should be considered in patients with severe pre- and postnatal short stature, symmetric shortening of long bones, triangular facies, sparse hair and short, thickened distal phalanges.
|
26374189 |
2016 |
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation.
|
26791357 |
2016 |
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
SOFT syndrome (MIM614813) is an extremely rare primordial dwarfism characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis, which is caused by biallelic mutations in the POC1A gene.
|
26791357 |
2016 |
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Truncation of POC1A associated with short stature and extreme insulin resistance.
|
26336158 |
2015 |
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME
|
0.760 |
Biomarker
|
disease |
BEFREE |
POC1A encodes a WD repeat protein localizing to centrioles and spindle poles and is associated with short stature, onychodysplasia, facial dysmorphism and hypotrichosis (SOFT) syndrome.
|
26162852 |
2015 |
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Truncation of POC1A associated with short stature and extreme insulin resistance.
|
26336158 |
2015 |
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Truncation of POC1A associated with short stature and extreme insulin resistance.
|
26336158 |
2015 |
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME
|
0.760 |
GermlineCausalMutation
|
disease |
ORPHANET |
POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.
|
22840364 |
2012 |
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families.
|
22440536 |
2012 |
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME
|
0.760 |
GermlineCausalMutation
|
disease |
ORPHANET |
In the present study, we report on an autosomal-recessive osteocutaneous disorder that we termed SOFT (short stature, onychodysplasia, facial dysmorphism, and hypotrichosis) syndrome.
|
22840363 |
2012 |
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families.
|
22440536 |
2012 |
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
In the present study, we report on an autosomal-recessive osteocutaneous disorder that we termed SOFT (short stature, onychodysplasia, facial dysmorphism, and hypotrichosis) syndrome.
|
22840363 |
2012 |
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME
|
0.760 |
Biomarker
|
disease |
BEFREE |
In the present study, we report on an autosomal-recessive osteocutaneous disorder that we termed SOFT (short stature, onychodysplasia, facial dysmorphism, and hypotrichosis) syndrome.
|
22840363 |
2012 |
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.
|
22840364 |
2012 |
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|