Etiology
Vasko A,
Drivas TG,
Schrier Vergano SA
Genes (Basel)
2021 Jun 19;12(6)
doi: 10.3390/genes12060937.
PMID: 34205270Free PMC Article
Baek GH,
Kim J
J Hand Surg Asian Pac Vol
2016 Oct;21(3):283-91.
doi: 10.1142/S2424835516400087.
PMID: 27595943
Le Goff C,
Michot C,
Cormier-Daire V
Clin Genet
2014 Jun;85(6):503-13.
Epub 2014 Apr 2
doi: 10.1111/cge.12365.
PMID: 24580733
Rosenfeld JA,
Traylor RN,
Schaefer GB,
McPherson EW,
Ballif BC,
Klopocki E,
Mundlos S,
Shaffer LG,
Aylsworth AS;
1q21.1 Study Group
Eur J Hum Genet
2012 Jul;20(7):754-61.
Epub 2012 Feb 8
doi: 10.1038/ejhg.2012.6.
PMID: 22317977Free PMC Article
Temtamy SA,
Aglan MS
Orphanet J Rare Dis
2008 Jun 13;3:15.
doi: 10.1186/1750-1172-3-15.
PMID: 18554391Free PMC Article
Diagnosis
Skwarek-Dziekanowska A,
Wójtowicz-Ściślak A,
Sobieszek G
Eur Rev Med Pharmacol Sci
2024 Jan;28(1):336-341.
doi: 10.26355/eurrev_202401_34921.
PMID: 38235884
Holmes LB,
Nasri HZ
Am J Med Genet A
2022 Nov;188(11):3236-3241.
Epub 2022 Sep 8
doi: 10.1002/ajmg.a.62941.
PMID: 36073773
Chu A,
Chan J,
Baxi O
Pediatr Clin North Am
2020 Feb;67(1):85-99.
doi: 10.1016/j.pcl.2019.09.011.
PMID: 31779839
Tonkin MA
J Hand Surg Eur Vol
2017 Jun;42(5):448-456.
Epub 2017 Feb 17
doi: 10.1177/1753193417690965.
PMID: 28488459
Temtamy SA,
Aglan MS
Orphanet J Rare Dis
2008 Jun 13;3:15.
doi: 10.1186/1750-1172-3-15.
PMID: 18554391Free PMC Article
Therapy
Society for Maternal-Fetal Medicine (SMFM),
Gandhi M,
Rac MWF,
McKinney J
Am J Obstet Gynecol
2019 Dec;221(6):B16-B18.
doi: 10.1016/j.ajog.2019.09.024.
PMID: 31787159
Murphy GRF,
Logan MPO,
Smith G,
Sivakumar B,
Smith P
J Bone Joint Surg Am
2017 Dec 20;99(24):2120-2126.
doi: 10.2106/JBJS.17.00164.
PMID: 29257019Free PMC Article
Comer GC,
Ladd AL
Hand Clin
2015 May;31(2):361-75.
doi: 10.1016/j.hcl.2015.01.011.
PMID: 25934210
Le JT,
Scott-Wyard PR
Phys Med Rehabil Clin N Am
2015 Feb;26(1):95-108.
doi: 10.1016/j.pmr.2014.09.006.
PMID: 25479783
Damsin JP,
Ghanem I
Hand Clin
2000 Nov;16(4):685-701.
PMID: 11117057
Prognosis
Le Goff C,
Michot C,
Cormier-Daire V
Clin Genet
2014 Jun;85(6):503-13.
Epub 2014 Apr 2
doi: 10.1111/cge.12365.
PMID: 24580733
Bloom J,
Upton J 3rd
J Hand Surg Am
2013 Dec;38(12):2508-12.
Epub 2013 Oct 23
doi: 10.1016/j.jhsa.2013.08.120.
PMID: 24161472
Neylon OM,
Werther GA,
Sabin MA
Curr Opin Pediatr
2012 Aug;24(4):505-11.
doi: 10.1097/MOP.0b013e3283558995.
PMID: 22705997
Digilio MC,
Dallapiccola B
Orphanet J Rare Dis
2010 Sep 29;5:25.
doi: 10.1186/1750-1172-5-25.
PMID: 20920258Free PMC Article
Temtamy SA,
Aglan MS
Orphanet J Rare Dis
2008 Jun 13;3:15.
doi: 10.1186/1750-1172-3-15.
PMID: 18554391Free PMC Article
Clinical prediction guides
van der Sluijs PJ,
Joosten M,
Alby C,
Attié-Bitach T,
Gilmore K,
Dubourg C,
Fradin M,
Wang T,
Kurtz-Nelson EC,
Ahlers KP,
Arts P,
Barnett CP,
Ashfaq M,
Baban A,
van den Born M,
Borrie S,
Busa T,
Byrne A,
Carriero M,
Cesario C,
Chong K,
Cueto-González AM,
Dempsey JC,
Diderich KEM,
Doherty D,
Farholt S,
Gerkes EH,
Gorokhova S,
Govaerts LCP,
Gregersen PA,
Hickey SE,
Lefebvre M,
Mari F,
Martinovic J,
Northrup H,
O'Leary M,
Parbhoo K,
Patrier S,
Popp B,
Santos-Simarro F,
Stoltenburg C,
Thauvin-Robinet C,
Thompson E,
Vulto-van Silfhout AT,
Zahir FR,
Scott HS,
Earl RK,
Eichler EE,
Vora NL,
Wilnai Y,
Giordano JL,
Wapner RJ,
Rosenfeld JA,
Haak MC,
Santen GWE
Genet Med
2022 Aug;24(8):1753-1760.
Epub 2022 May 18
doi: 10.1016/j.gim.2022.04.010.
PMID: 35579625Free PMC Article
van der Sluijs PJ,
Jansen S,
Vergano SA,
Adachi-Fukuda M,
Alanay Y,
AlKindy A,
Baban A,
Bayat A,
Beck-Wödl S,
Berry K,
Bijlsma EK,
Bok LA,
Brouwer AFJ,
van der Burgt I,
Campeau PM,
Canham N,
Chrzanowska K,
Chu YWY,
Chung BHY,
Dahan K,
De Rademaeker M,
Destree A,
Dudding-Byth T,
Earl R,
Elcioglu N,
Elias ER,
Fagerberg C,
Gardham A,
Gener B,
Gerkes EH,
Grasshoff U,
van Haeringen A,
Heitink KR,
Herkert JC,
den Hollander NS,
Horn D,
Hunt D,
Kant SG,
Kato M,
Kayserili H,
Kersseboom R,
Kilic E,
Krajewska-Walasek M,
Lammers K,
Laulund LW,
Lederer D,
Lees M,
López-González V,
Maas S,
Mancini GMS,
Marcelis C,
Martinez F,
Maystadt I,
McGuire M,
McKee S,
Mehta S,
Metcalfe K,
Milunsky J,
Mizuno S,
Moeschler JB,
Netzer C,
Ockeloen CW,
Oehl-Jaschkowitz B,
Okamoto N,
Olminkhof SNM,
Orellana C,
Pasquier L,
Pottinger C,
Riehmer V,
Robertson SP,
Roifman M,
Rooryck C,
Ropers FG,
Rosello M,
Ruivenkamp CAL,
Sagiroglu MS,
Sallevelt SCEH,
Sanchis Calvo A,
Simsek-Kiper PO,
Soares G,
Solaeche L,
Sonmez FM,
Splitt M,
Steenbeek D,
Stegmann APA,
Stumpel CTRM,
Tanabe S,
Uctepe E,
Utine GE,
Veenstra-Knol HE,
Venkateswaran S,
Vilain C,
Vincent-Delorme C,
Vulto-van Silfhout AT,
Wheeler P,
Wilson GN,
Wilson LC,
Wollnik B,
Kosho T,
Wieczorek D,
Eichler E,
Pfundt R,
de Vries BBA,
Clayton-Smith J,
Santen GWE
Genet Med
2019 Jun;21(6):1295-1307.
Epub 2018 Nov 8
doi: 10.1038/s41436-018-0330-z.
PMID: 30349098Free PMC Article
Potuijt JWP,
Galjaard RH,
van der Spek PJ,
van Nieuwenhoven CA,
Ahituv N,
Oberg KC,
Hovius SER
J Hand Surg Eur Vol
2019 Jan;44(1):59-68.
Epub 2018 Oct 14
doi: 10.1177/1753193418803521.
PMID: 30318985Free PMC Article
Baek GH,
Kim J
J Hand Surg Asian Pac Vol
2016 Oct;21(3):283-91.
doi: 10.1142/S2424835516400087.
PMID: 27595943
Smith AT,
Sack GH Jr,
Taylor GJ
J Pediatr
1979 Oct;95(4):538-43.
doi: 10.1016/s0022-3476(79)80758-1.
PMID: 480027