Focal dermal hypoplasia is a rare developmental disorder affecting skin, eyes, teeth, and musculoskeletal system. Focal dermal hypoplasia is transmitted as an X-linked dominant disorder but rare male cases occur due to half chromatid mutations. We report on a male child with focal dermal hypoplasia with skin and eye defects. Association of porencephalic cyst in the brain is also reported.
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Sichuan Univ, West China Hosp Stomatol, State Key Lab Oral Dis, Chengdu 610041, Sichuan, Peoples R ChinaSichuan Univ, West China Hosp Stomatol, State Key Lab Oral Dis, Chengdu 610041, Sichuan, Peoples R China
Wang, L.
Jin, X.
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Sichuan Univ, West China Hosp Stomatol, State Key Lab Oral Dis, Chengdu 610041, Sichuan, Peoples R ChinaSichuan Univ, West China Hosp Stomatol, State Key Lab Oral Dis, Chengdu 610041, Sichuan, Peoples R China
Jin, X.
Zhao, X.
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Sichuan Univ, West China Hosp Stomatol, State Key Lab Oral Dis, Chengdu 610041, Sichuan, Peoples R ChinaSichuan Univ, West China Hosp Stomatol, State Key Lab Oral Dis, Chengdu 610041, Sichuan, Peoples R China
Zhao, X.
Liu, D.
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Sichuan Univ, West China Hosp Stomatol, State Key Lab Oral Dis, Chengdu 610041, Sichuan, Peoples R ChinaSichuan Univ, West China Hosp Stomatol, State Key Lab Oral Dis, Chengdu 610041, Sichuan, Peoples R China
Liu, D.
Hu, T.
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Sichuan Univ, West China Hosp Stomatol, State Key Lab Oral Dis, Chengdu 610041, Sichuan, Peoples R ChinaSichuan Univ, West China Hosp Stomatol, State Key Lab Oral Dis, Chengdu 610041, Sichuan, Peoples R China
Hu, T.
Li, W.
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Sichuan Univ, West China Hosp Stomatol, Dept Dermatol, Chengdu 610041, Sichuan, Peoples R ChinaSichuan Univ, West China Hosp Stomatol, State Key Lab Oral Dis, Chengdu 610041, Sichuan, Peoples R China
Li, W.
Jiang, L.
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Sichuan Univ, West China Hosp Stomatol, State Key Lab Oral Dis, Chengdu 610041, Sichuan, Peoples R ChinaSichuan Univ, West China Hosp Stomatol, State Key Lab Oral Dis, Chengdu 610041, Sichuan, Peoples R China
Jiang, L.
Dan, H.
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Sichuan Univ, West China Hosp Stomatol, State Key Lab Oral Dis, Chengdu 610041, Sichuan, Peoples R ChinaSichuan Univ, West China Hosp Stomatol, State Key Lab Oral Dis, Chengdu 610041, Sichuan, Peoples R China
Dan, H.
Zeng, X.
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Sichuan Univ, West China Hosp Stomatol, State Key Lab Oral Dis, Chengdu 610041, Sichuan, Peoples R ChinaSichuan Univ, West China Hosp Stomatol, State Key Lab Oral Dis, Chengdu 610041, Sichuan, Peoples R China
Zeng, X.
Chen, Q.
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Sichuan Univ, West China Hosp Stomatol, State Key Lab Oral Dis, Chengdu 610041, Sichuan, Peoples R ChinaSichuan Univ, West China Hosp Stomatol, State Key Lab Oral Dis, Chengdu 610041, Sichuan, Peoples R China
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Univ Colorado, Div Pediat Endocrinol, Sch Med, 13123 E 16th Ave,Box B265, Aurora, CO 80045 USAUniv Colorado, Div Pediat Endocrinol, Sch Med, 13123 E 16th Ave,Box B265, Aurora, CO 80045 USA
Hsu, Stephanie C.
Bartz, Sarah
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Univ Colorado, Div Pediat Endocrinol, Sch Med, 13123 E 16th Ave,Box B265, Aurora, CO 80045 USAUniv Colorado, Div Pediat Endocrinol, Sch Med, 13123 E 16th Ave,Box B265, Aurora, CO 80045 USA
Bartz, Sarah
Pyle, Laura
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Univ Colorado, Dept Pediat, Sch Med & Biostat & Informat, Sch Publ Hlth, Aurora, CO USAUniv Colorado, Div Pediat Endocrinol, Sch Med, 13123 E 16th Ave,Box B265, Aurora, CO 80045 USA
Pyle, Laura
Fete, Mary
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Natl Fdn Ectodermal Dysplasias, Fairview Hts, IL USAUniv Colorado, Div Pediat Endocrinol, Sch Med, 13123 E 16th Ave,Box B265, Aurora, CO 80045 USA
Fete, Mary
Davis, Shanlee
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Univ Colorado, Div Pediat Endocrinol, Sch Med, 13123 E 16th Ave,Box B265, Aurora, CO 80045 USAUniv Colorado, Div Pediat Endocrinol, Sch Med, 13123 E 16th Ave,Box B265, Aurora, CO 80045 USA
Davis, Shanlee
Ohman-Hanson, Rebecca
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Univ Colorado, Div Pediat Endocrinol, Sch Med, 13123 E 16th Ave,Box B265, Aurora, CO 80045 USAUniv Colorado, Div Pediat Endocrinol, Sch Med, 13123 E 16th Ave,Box B265, Aurora, CO 80045 USA
Ohman-Hanson, Rebecca
Fete, Timothy J.
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Univ Missouri, Dept Child Hlth, Columbia Sch Med, Columbia, MO 65201 USAUniv Colorado, Div Pediat Endocrinol, Sch Med, 13123 E 16th Ave,Box B265, Aurora, CO 80045 USA
Fete, Timothy J.
Motil, Kathleen J.
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ARS, USDA, Childrens Nutr Res Ctr,Texas Childrens Hosp, Dept Pediat,Baylor Coll Med,Sect Pediat Gastroent, Houston, TX USAUniv Colorado, Div Pediat Endocrinol, Sch Med, 13123 E 16th Ave,Box B265, Aurora, CO 80045 USA
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Mohammed VI Univ Hosp, Clin Res Ctr, Dept Genet, BP2360 Principal,Av Ibn Sina, Marrakech, MoroccoMohammed VI Univ Hosp, Clin Res Ctr, Dept Genet, BP2360 Principal,Av Ibn Sina, Marrakech, Morocco
Mansouri, Maria
Bouzid, Fatima Zohra
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Mohammed VI Univ Hosp, Clin Res Ctr, Dept Genet, BP2360 Principal,Av Ibn Sina, Marrakech, MoroccoMohammed VI Univ Hosp, Clin Res Ctr, Dept Genet, BP2360 Principal,Av Ibn Sina, Marrakech, Morocco
Bouzid, Fatima Zohra
Amal, Said
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Cadi Ayyad Univ, Fac Med & Pharm, Marrakech, Morocco
Mohammed VI Univ Hosp, Dept Dermatol, Marrakech, MoroccoMohammed VI Univ Hosp, Clin Res Ctr, Dept Genet, BP2360 Principal,Av Ibn Sina, Marrakech, Morocco
Amal, Said
Hocar, Oufae
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Cadi Ayyad Univ, Fac Med & Pharm, Marrakech, Morocco
Mohammed VI Univ Hosp, Dept Dermatol, Marrakech, MoroccoMohammed VI Univ Hosp, Clin Res Ctr, Dept Genet, BP2360 Principal,Av Ibn Sina, Marrakech, Morocco
Hocar, Oufae
Aboussair, Nissrine
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Mohammed VI Univ Hosp, Clin Res Ctr, Dept Genet, BP2360 Principal,Av Ibn Sina, Marrakech, Morocco
Cadi Ayyad Univ, Fac Med & Pharm, Marrakech, MoroccoMohammed VI Univ Hosp, Clin Res Ctr, Dept Genet, BP2360 Principal,Av Ibn Sina, Marrakech, Morocco