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Alstrom syndrome with classical findings: a rare case report of monogenic ciliopathy co-occurrence in twins. [PDF]

Ann Med Surg (Lond)
Ghimire S, Simkhada S, Thapa S, Ghising K.   +3 more
europepmc   +1 more source

Phenoage and longitudinal changes on transthoracic echocardiography in Alström syndrome: a disease of accelerated ageing? [PDF]

Geroscience
Patel L, Roy A, Alvior AMB, Yuan M, Baig S, Bunting KV, Hodson J, Gehmlich K, Lord JM, Geberhiwot T, Steeds RP.   +10 more
europepmc   +1 more source

Unraveling Alström syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended family. [PDF]

Mol Genet Genomic Med
Abosabie SAS, Abosabie SA, Alfaifi J, Alqahtani YA, Shati AA, Alotaibi NA, Alghamdi OA, Alotaibi GN, Baabdullah AA, Kabrah LK, Kamal NM, Oshi MAM, Abdallah EAA.   +12 more
europepmc   +1 more source

Diagnostic Criteria for Sjögran Syndrome [PDF]

, 1994
the European Study Group of Diagnostic Criteria for Sjögren Syndrome, BENCIVELLI, VALTER, Vitali C., BOMBARDIERI, STEFANO   +3 more
core  

Alstrom Syndrome with Novel ALMS1 Mutations: A Case Report [PDF]

Experimental and Clinical Endocrinology & Diabetes Reports, 2017
Abstract Objective To report novel mutations of ALMS1 and evaluate clinical characteristics in the Chinese Child with Alstrom syndrome (ALMS). Methods The Child and his parents were examined clinically and venous blood was collected. ALMSl gene analysis was carried out using DNA Sanger sequencing.
Lanrong Liu, Hong Li, Lixin Shi
exaly   +4 more sources

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A review on Alstrom Syndrome

International Journal of Science and Research Archive, 2023
Alström syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes, hypertriglyceridemia, short stature in adulthood, cardiomyopathy, and progressive pulmonary, hepatic, and renal dysfunction.
null RENATT C FRANCIS, null MATEW GEORGE, null LINCY JOSEPH, null SARANYA SASI, null SRUTHI KRISHNA P K   +4 more
openaire   +1 more source