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TranscriptomicsSarig et al. SOFT syndrome caused by a mutation in POC1A
Disproportionate short stature refers to a heterogeneous group of hereditary disorders, which are classified according to their mode of inheritance, their clinical skeletal and non-skeletal manifestations, and their radiological characteristics. In the present study, we report on a novel autosomal r...
ORGANISM(S): Homo sapiens 
2012-08-22 | E-MEXP-3650 | biostudies-arrayexpress
UnknownShort Stature Syndromes: Case Series from India.
Not available
S-EPMC9578783 | biostudies-literature
UnknownGenetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.
Not available
S-EPMC8530715 | biostudies-literature
UnknownHypoglossia-hypodactyly syndrome with short stature - a case report.
Not available
S-EPMC4064859 | biostudies-literature
TranscriptomicsGene expression profiling of fibroblasts harboring POC1A mutation
POC1A encodes a WD repeat protein localizing to centrioles and spindle poles and associated with Short stature, onychodysplasia, facial dysmorphism and hypotrichosis (SOFT) syndrome (OMIM #614813). In our study, we reported on two patients with primordial dwarfism (PD) from the same family. We utili...
ORGANISM(S): Homo sapiens 
2015-07-15 | E-GEOD-66314 | biostudies-arrayexpress
UnknownRare copy number variants are a common cause of short stature.
Not available
S-EPMC3597495 | biostudies-literature
UnknownA Novel Syndrome With Short Stature, Mandibular Hypoplasia, and Osteoporosis May Be Associated With a PRRT3 Variant.
Not available
S-EPMC7417871 | biostudies-literature
UnknownAn XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.
Not available
S-EPMC4422886 | biostudies-literature
UnknownClinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia.
Not available
S-EPMC2652813 | biostudies-literature
UnknownTwo Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia.
Not available
S-EPMC5135661 | biostudies-literature
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