Etiology
Tona R,
Inagaki S,
Ishibashi Y,
Faridi R,
Yousaf R,
Roux I,
Wilson E,
Fenollar-Ferrer C,
Chien WW,
Belyantseva IA,
Friedman TB
J Biol Chem
2024 Sep;300(9):107725.
Epub 2024 Aug 28
doi: 10.1016/j.jbc.2024.107725.
PMID: 39214300Free PMC Article
Gao X,
Dai P,
Yuan YY
Hum Genet
2022 Apr;141(3-4):821-838.
Epub 2021 Jul 7
doi: 10.1007/s00439-021-02310-2.
PMID: 34232384
Campeau PM,
Hennekam RC;
DOORS syndrome collaborative group
Am J Med Genet C Semin Med Genet
2014 Sep;166C(3):327-32.
Epub 2014 Aug 28
doi: 10.1002/ajmg.c.31412.
PMID: 25169651
Poerink JG,
Kon M,
van Minnen LP
J Plast Reconstr Aesthet Surg
2011 Jun;64(6):822-6.
Epub 2010 Oct 6
doi: 10.1016/j.bjps.2010.08.043.
PMID: 20926359
Gobello T,
Mazzanti C,
Zambruno G,
Chinni LM,
Happle R
Dermatology
2000;201(1):51-3.
doi: 10.1159/000018431.
PMID: 10971062
Diagnosis
Bernal Masferrer L,
Matei MC,
Gilaberte Calzada Y,
Navarro Campoamor L
Actas Dermosifiliogr
2024 Sep;115(8):T773-T780.
Epub 2024 Jul 5
doi: 10.1016/j.ad.2024.07.011.
PMID: 38972583
Lim SYD,
Cheng WNS
Am Fam Physician
2023 Feb;107(2):118-119.
PMID: 36791457
Gao X,
Dai P,
Yuan YY
Hum Genet
2022 Apr;141(3-4):821-838.
Epub 2021 Jul 7
doi: 10.1007/s00439-021-02310-2.
PMID: 34232384
Brennan CB,
Buehler T,
Lesher JL Jr
Pediatr Dermatol
2013 Jul-Aug;30(4):e52-3.
Epub 2012 Feb 13
doi: 10.1111/j.1525-1470.2011.01668.x.
PMID: 22329539
Qazi Q,
Kassner EG
J Med Genet
1988 Aug;25(8):505-20.
doi: 10.1136/jmg.25.8.505.
PMID: 3050097Free PMC Article
Therapy
Armina S,
Heiko T,
Rudolf H,
Judith F,
Dimitra K,
Peter S
J Dtsch Dermatol Ges
2020 Sep;18(9):1054-1057.
Epub 2020 Jun 8
doi: 10.1111/ddg.14141.
PMID: 32515052
Joy Way Bueno SM,
Santos Muñoz A,
Maldonado I,
Larralde M
Pediatr Dermatol
2020 Jan;37(1):159-161.
Epub 2019 Oct 20
doi: 10.1111/pde.14021.
PMID: 31630427
Ali ME,
Sikdar AU,
Akhtar N,
Islam ZM
Mymensingh Med J
2007 Jan;16(1):100-3.
doi: 10.3329/mmj.v16i1.262.
PMID: 17344790
Prognosis
Lozano R,
Herman K,
Rothfuss M,
Rieger H,
Bayrak-Toydemir P,
Aprile D,
Fruscione F,
Zara F,
Fassio A
Am J Med Genet A
2016 Dec;170(12):3207-3214.
Epub 2016 Aug 19
doi: 10.1002/ajmg.a.37933.
PMID: 27541164
Alessandri JL,
Cuillier F,
Malan V,
Brayer C,
Grondard M,
Jacquemot-Dekkak L,
Kieffer-Traversier M,
Pierre F,
Laurain C,
Samperiz S,
Tiran-Rajaofera I,
Ramful D
Am J Med Genet A
2014 Mar;164A(3):648-54.
Epub 2013 Dec 19
doi: 10.1002/ajmg.a.36323.
PMID: 24357154
Poerink JG,
Kon M,
van Minnen LP
J Plast Reconstr Aesthet Surg
2011 Jun;64(6):822-6.
Epub 2010 Oct 6
doi: 10.1016/j.bjps.2010.08.043.
PMID: 20926359
Clinical prediction guides
Arif T,
Amin SS,
Adil M,
Mohtashim M
Acta Dermatovenerol Croat
2017 Jul;25(2):161-163.
PMID: 28871934
Lozano R,
Herman K,
Rothfuss M,
Rieger H,
Bayrak-Toydemir P,
Aprile D,
Fruscione F,
Zara F,
Fassio A
Am J Med Genet A
2016 Dec;170(12):3207-3214.
Epub 2016 Aug 19
doi: 10.1002/ajmg.a.37933.
PMID: 27541164
Rasool M,
Nawaz S,
Azhar A,
Wajid M,
Westermark P,
Baig SM,
Klar J,
Dahl N
Eur J Dermatol
2010 Jul-Aug;20(4):443-6.
Epub 2010 Apr 21
doi: 10.1684/ejd.2010.0962.
PMID: 20409997
Gobello T,
Mazzanti C,
Zambruno G,
Chinni LM,
Happle R
Dermatology
2000;201(1):51-3.
doi: 10.1159/000018431.
PMID: 10971062
Perry HO,
Su WP
Semin Dermatol
1995 Jun;14(2):145-51.
doi: 10.1016/s1085-5629(05)80011-2.
PMID: 7640195