2019
DOI: 10.1016/j.annder.2019.01.023
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Alopécie, dysplasie auriculaire et déficit intellectuel en lien avec une délétion 21q terminale

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Cited by 2 publications
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“…Later, Lafabregue and his coworkers reported a French patient with alopecia, mental retardation, and deformed ears. The genetic diagnosis in this patient determined the deletion of the 3.6Mb region on 21q22.3 and suggests a condition of partial 21q monosomy (Lafabregue et al., 2019). They speculated that the APMR phenotypes may be due to the presence of the LSS gene within the deleted region on chromosome 21q22.3.…”
Section: Introductionmentioning
confidence: 91%
“…Later, Lafabregue and his coworkers reported a French patient with alopecia, mental retardation, and deformed ears. The genetic diagnosis in this patient determined the deletion of the 3.6Mb region on 21q22.3 and suggests a condition of partial 21q monosomy (Lafabregue et al., 2019). They speculated that the APMR phenotypes may be due to the presence of the LSS gene within the deleted region on chromosome 21q22.3.…”
Section: Introductionmentioning
confidence: 91%