Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases
<|begin_of_text|><|start_header_id|>system<|end_header_id|> You are a research archivist expert in dataset metadata. Answer the question truthfully.  <|eot_id|><|start_header_id|>user<|end_header_id|> Here is the Description of a dataset. Description:'This dataset contains the data for the paper 'Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases', by Pierpaola Tannorella et al. PMID: 33920573.Here are presented the MS-MLPA *.fsa files for UPD20 assessment for the three patients (ME031-GNAS and ME034-MultiLocus probemix).The files have been anonymized due to the patient's privacy policy.Abstract:Silver Russell Syndrome (SRS, MIM #180860) is a rare growth retardation disorder in which clinical diagnosis is based on six features: pre- and postnatal growth failure, relative macrocephaly, prominent forehead, body asymmetry, and feeding difficulties (Netchine-Harbison clinical scoring system (NH-CSS)). The molecular mechanisms consist in (epi)genetic deregulations at multiple loci: the loss' . Please return only a json list of at most 3 Keywords corresponding to the Description:.<|eot_id|><|start_header_id|>assistant<|end_header_id|> {"Answer" : ["GNAS DMR","growth disorder","Mulchandani–Bhoj–Conlin syndrome","Silver Russell","UPD(20)mat"]} <|eot_id|>
 Here is the Description of a dataset. Description:'This dataset contains the data for the paper 'Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases', by Pierpaola Tannorella et al. PMID: 33920573.Here are presented the MS-MLPA *.fsa files for UPD20 assessment for the three patients (ME031-GNAS and ME034-MultiLocus probemix).The files have been anonymized due to the patient's privacy policy.Abstract:Silver Russell Syndrome (SRS, MIM #180860) is a rare growth retardation disorder in which clinical diagnosis is based on six features: pre- and postnatal growth failure, relative macrocephaly, prominent forehead, body asymmetry, and feeding difficulties (Netchine-Harbison clinical scoring system (NH-CSS)). The molecular mechanisms consist in (epi)genetic deregulations at multiple loci: the loss' . Please return only a json list of at most 3 Keywords corresponding to the Description:.
This dataset contains the data for the paper 'Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases', by Pierpaola Tannorella et al. PMID: 33920573.Here are presented the MS-MLPA *.fsa files for UPD20 assessment for the three patients (ME031-GNAS and ME034-MultiLocus probemix).The files have been anonymized due to the patient's privacy policy.Abstract:Silver Russell Syndrome (SRS, MIM #180860) is a rare growth retardation disorder in which clinical diagnosis is based on six features: pre- and postnatal growth failure, relative macrocephaly, prominent forehead, body asymmetry, and feeding difficulties (Netchine-Harbison clinical scoring system (NH-CSS)). The molecular mechanisms consist in (epi)genetic deregulations at multiple loci: the loss
GNAS DMR; growth disorder; Mulchandani–Bhoj–Conlin syndrome; Silver Russell; UPD(20)mat