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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome (vol 108, pg 1095, 2021)
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome (vol 108, pg 1095, 2021)
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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome (vol 108, pg 1095, 2021)

Pottie, Lore ; Adamo, Christin S ; Beyens, Aude ; Lutke, Steffen ; Tapaneeyaphan, Piyanoot ; De Clercq, Adelbert ; Salmon, Phil L ; De Rycke, Riet ; Gezdirici, Alper ; Gulec, Elif Yilmaz ; Khan, Naz ; Urquhart, Jill E ; Newman, William G ; Metcalfe, Kay ; Efthymiou, Stephanie ; Maroofian, Reza ; Anwar, Najwa ; Maqbool, Shazia ; Rahman, Fatima ; Altweijri, Ikhlass ; Alsaleh, Monerah ; Abdullah, Sawsan Mohamed ; Al-Owain, Mohammad ; Hashem, Mais ; Houlden, Henry ; Alkuraya, Fowzan S ; Sips, Patrick ; Sengle, Gerhard ; Callewaert, Bert

2021

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Abrogation of HMX1 Function Causes Rare Oculoauricular Syndrome Associated With Congenital Cataract, Anterior Segment Dysgenesis, and Retinal Dystrophy
Abrogation of HMX1 Function Causes Rare Oculoauricular Syndrome Associated With Congenital Cataract, Anterior Segment Dysgenesis, and Retinal Dystrophy
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Abrogation of HMX1 Function Causes Rare Oculoauricular Syndrome Associated With Congenital Cataract, Anterior Segment Dysgenesis, and Retinal Dystrophy

Gillespie, Rachel L ; Urquhart, Jill ; Lovell, Simon C ; Biswas, Susmito ; Parry, Neil R. A ; Schorderet, Daniel F ; Lloyd, I. Chris ; Clayton-Smith, Jill ; Black, Graeme C

Rockville, Assoc Research Vision Ophthalmology Inc

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