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LZTFL1 , a Rare Cause of Bardet-Biedl Syndrome: A New Patient with Severe Short Stature and Moderate Intellectual Disability, More Than Casual Associations?

Simone Gana,Marta Di Biagio, Laura Carraro, Gloria Rossetto, Laura Scarpelli,Ilaria Scognamillo,Enza Maria Valente,Sabrina Signorini

AMERICAN JOURNAL OF MEDICAL GENETICS PART A(2024)

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关键词
Bardet-Biedl syndrome,exome sequencing,LZTFL1,short stature
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