Etiology
Lui JC,
Baron J
J Clin Endocrinol Metab
2024 Jan 18;109(2):312-320.
doi: 10.1210/clinem/dgad420.
PMID: 37450557
Jalanko H,
Mattila I,
Holmberg C
Pediatr Nephrol
2016 May;31(5):725-35.
Epub 2015 Jun 27
doi: 10.1007/s00467-015-3144-0.
PMID: 26115617
Cereda A,
Carey JC
Orphanet J Rare Dis
2012 Oct 23;7:81.
doi: 10.1186/1750-1172-7-81.
PMID: 23088440Free PMC Article
Baujat G,
Cormier-Daire V
Orphanet J Rare Dis
2007 Sep 7;2:36.
doi: 10.1186/1750-1172-2-36.
PMID: 17825104Free PMC Article
Blake KD,
Prasad C
Orphanet J Rare Dis
2006 Sep 7;1:34.
doi: 10.1186/1750-1172-1-34.
PMID: 16959034Free PMC Article
Diagnosis
Wang JC,
Nagy L,
Demke JC
Facial Plast Surg Clin North Am
2016 Nov;24(4):531-543.
doi: 10.1016/j.fsc.2016.06.008.
PMID: 27712819
Cereda A,
Carey JC
Orphanet J Rare Dis
2012 Oct 23;7:81.
doi: 10.1186/1750-1172-7-81.
PMID: 23088440Free PMC Article
Otter M,
Schrander-Stumpel CT,
Curfs LM
Eur J Hum Genet
2010 Mar;18(3):265-71.
Epub 2009 Jul 1
doi: 10.1038/ejhg.2009.109.
PMID: 19568271Free PMC Article
Kabbani H,
Raghuveer TS
Am Fam Physician
2004 Jun 15;69(12):2863-70.
PMID: 15222651
Ambler G
Best Pract Res Clin Endocrinol Metab
2002 Sep;16(3):519-46.
doi: 10.1053/beem.2002.0207.
PMID: 12464232
Therapy
Lees CC,
Romero R,
Stampalija T,
Dall'Asta A,
DeVore GA,
Prefumo F,
Frusca T,
Visser GHA,
Hobbins JC,
Baschat AA,
Bilardo CM,
Galan HL,
Campbell S,
Maulik D,
Figueras F,
Lee W,
Unterscheider J,
Valensise H,
Da Silva Costa F,
Salomon LJ,
Poon LC,
Ferrazzi E,
Mari G,
Rizzo G,
Kingdom JC,
Kiserud T,
Hecher K
Am J Obstet Gynecol
2022 Mar;226(3):366-378.
Epub 2022 Jan 10
doi: 10.1016/j.ajog.2021.11.1357.
PMID: 35026129Free PMC Article
Schroder JD,
Falqueto H,
Mânica A,
Zanini D,
de Oliveira T,
de Sá CA,
Cardoso AM,
Manfredi LH
J Transl Med
2021 Jan 6;19(1):3.
doi: 10.1186/s12967-020-02687-0.
PMID: 33407612Free PMC Article
Costa LG,
Cole TB,
Dao K,
Chang YC,
Coburn J,
Garrick JM
Pharmacol Ther
2020 Jun;210:107523.
Epub 2020 Mar 9
doi: 10.1016/j.pharmthera.2020.107523.
PMID: 32165138Free PMC Article
Starace M,
Orlando G,
Alessandrini A,
Piraccini BM
Am J Clin Dermatol
2020 Feb;21(1):69-84.
doi: 10.1007/s40257-019-00479-x.
PMID: 31677111
Fragoulis GE,
McInnes IB,
Siebert S
Rheumatology (Oxford)
2019 Feb 1;58(Suppl 1):i43-i54.
doi: 10.1093/rheumatology/key276.
PMID: 30806709Free PMC Article
Prognosis
Fabre A,
Martinez-Vinson C,
Goulet O,
Badens C
Orphanet J Rare Dis
2013 Jan 9;8:5.
doi: 10.1186/1750-1172-8-5.
PMID: 23302111Free PMC Article
Cereda A,
Carey JC
Orphanet J Rare Dis
2012 Oct 23;7:81.
doi: 10.1186/1750-1172-7-81.
PMID: 23088440Free PMC Article
Baujat G,
Cormier-Daire V
Orphanet J Rare Dis
2007 Sep 7;2:36.
doi: 10.1186/1750-1172-2-36.
PMID: 17825104Free PMC Article
Fletcher B,
Lamendola C
J Cardiovasc Nurs
2004 Sep-Oct;19(5):339-45.
doi: 10.1097/00005082-200409000-00009.
PMID: 15495894
Ambler G
Best Pract Res Clin Endocrinol Metab
2002 Sep;16(3):519-46.
doi: 10.1053/beem.2002.0207.
PMID: 12464232
Clinical prediction guides
Voutetakis A
Handb Clin Neurol
2021;181:9-27.
doi: 10.1016/B978-0-12-820683-6.00002-6.
PMID: 34238482
Fabre A,
Martinez-Vinson C,
Goulet O,
Badens C
Orphanet J Rare Dis
2013 Jan 9;8:5.
doi: 10.1186/1750-1172-8-5.
PMID: 23302111Free PMC Article
Baujat G,
Cormier-Daire V
Orphanet J Rare Dis
2007 Sep 7;2:36.
doi: 10.1186/1750-1172-2-36.
PMID: 17825104Free PMC Article
Ambler G
Best Pract Res Clin Endocrinol Metab
2002 Sep;16(3):519-46.
doi: 10.1053/beem.2002.0207.
PMID: 12464232
Slavotinek A,
Shaffer LG,
Shapira SK
J Med Genet
1999 Sep;36(9):657-63.
PMID: 10507720Free PMC Article