2024
Clinical and genetic investigation of 14 families with various forms of short stature syndromes
Khan F, Khan H, Ullah K, Nawaz S, Abdullah, Khan M, Ahmed S, Ilyas M, Ali A, Ullah I, Sohail A, Hussain S, Ahmad F, Faisal, Sufyan R, Hayat A, Hanif T, Bibi F, Hayat M, Ullah R, Khan I, Ali R, Hasni M, Ali H, Bilal M, Peralta S, Buchert R, Zehri Z, Hassan G, Liaqat K, Zahid M, Shah K, Mikitie O, Haack T, Ji W, Lakhani S, Ansar M, Ahmad W. Clinical and genetic investigation of 14 families with various forms of short stature syndromes. Clinical Genetics 2024, 106: 347-353. PMID: 38774940, DOI: 10.1111/cge.14550.Peer-Reviewed Original ResearchSyndromic forms of short statureFamilies of Pakistani originDisease-causing gene variantsSyndromic formsWhole-exome sequencingSequence variantsHomozygosity mappingIdentified genesExome sequencingAutosomal dominant mannerSanger sequencingXRCC4 geneMutation spectrumGenetic etiologyGenetic investigationsLethal defectShort statureGene variantsGenesDominant mannerReduced growthShort stature syndromeHeterogeneous group of disordersSequenceGroup of disorders
2023
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta
Caron V, Chassaing N, Ragge N, Boschann F, Ngu A, Meloche E, Chorfi S, Lakhani S, Ji W, Steiner L, Marcadier J, Jansen P, van de Pol L, van Hagen J, Russi A, Le Guyader G, Nordenskjöld M, Nordgren A, Anderlid B, Plaisancié J, Stoltenburg C, Horn D, Drenckhahn A, Hamdan F, Lefebvre M, Attie-Bitach T, Forey P, Smirnov V, Ernould F, Jacquemont M, Grotto S, Alcantud A, Coret A, Ferrer-Avargues R, Srivastava S, Vincent-Delorme C, Romoser S, Safina N, Saade D, Lupski J, Calame D, Geneviève D, Chatron N, Schluth-Bolard C, Myers K, Dobyns W, Calvas P, Study T, Salmon C, Holt R, Elmslie F, Allaire M, Prigozhin D, Tremblay A, Michaud J. Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta. Genetics In Medicine 2023, 25: 100856. PMID: 37092537, PMCID: PMC10757562, DOI: 10.1016/j.gim.2023.100856.Peer-Reviewed Original ResearchConceptsPathogenic variantsLikely pathogenic variantsRetinoic acid receptor betaDevelopmental eye anomaliesGlobal developmental delayAcid receptor betaRetinoic acid receptor beta geneExtensive clinical heterogeneityClinical spectrumClinical dataEye anomaliesMotor impairmentCardinal featuresClinical heterogeneityReceptor betaNormal responseBirth anomaliesDevelopmental delayFunction variantsSyndromic formsAffected individualsDominant variantVariable phenotypeFunctional heterogeneityBeta gene