2001
DOI: 10.1002/1096-8628(20010515)100:4<333::aid-ajmg1272>3.0.co;2-i
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Reply to the letter to the editor by Wuyts et al.??Burning down DEFECT11?

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Cited by 6 publications
(5 citation statements)
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References 18 publications
(43 reference statements)
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“…I am not alone in pursuing this lofty goal as others have also taken up the gauntlet to rid of offensive terminology in the medical literature [Biesecker and Pilz, 2001; Sheffer, 2001; Wuyts et al, 2001].…”
Section: To the Editormentioning
confidence: 99%
“…I am not alone in pursuing this lofty goal as others have also taken up the gauntlet to rid of offensive terminology in the medical literature [Biesecker and Pilz, 2001; Sheffer, 2001; Wuyts et al, 2001].…”
Section: To the Editormentioning
confidence: 99%
“…Potocki–Shaffer syndrome (PSS) (MIM # 601224) is a contiguous gene deletion syndrome (CGDS) (previously referred to as DEFECT 11 [1,2]) caused by the haploinsufficiency of genes located in 11p11.2 [3–5]. Clinical findings include biparietal foramina, multiple exostoses, dysmorphic features, and mental retardation [3,5–8].…”
mentioning
confidence: 99%
“…In her thoughtful reply to Wuyts et al concerning the debate over naming syndromes, Dr. Shafer lists six reasons in favor of using eponyms for describing syndromes [Carey, 2001;Shaffer, 2001;Wuyts et al, 2001]. The sixth reason was``eponyms are usually not offensive to patients.''…”
Section: To the Editormentioning
confidence: 99%