Results 111 to 120 of about 2,045 (160)

Marfan Syndrome-Comprehensive Dental/Surgical Management: Clinical Case Report. [PDF]

Int J Clin Pediatr Dent
Valdiviezo JP, Hidalgo AC, Tates MR, Ron BV.   +3 more
europepmc   +1 more source

Decoding the Cutaneous Jigsaw: Understanding the Patho-mechanisms of Cutaneous Mosaicism. [PDF]

Indian Dermatol Online J
Prasanna S, Singh S, Bhoite K.
europepmc   +1 more source

Novel De Novo DLL4 Missense and Highly Accurate Protein Structure Prediction in Adams-Oliver Type 6 Syndrome. [PDF]

Clin Case Rep
Cabrera R, Montañez MYB, Gil-Quiñones SR, Beltrán AM, Santiago-Tovar N, Contreras-Bravo N, Fonseca-Mendoza DJ, Restrepo CM, Morel A.   +8 more
europepmc   +1 more source

Hajdu-Cheney Syndrome as a Rare Cause of Acroosteolysis: A Case Report. [PDF]

Cureus
Nahi C, Jdioui W, Mouaddine K, Ichane MA, Mebrouk N, Chkirate B.   +5 more
europepmc   +1 more source

A case of serpentine fibula-polycystic kidney syndrome presenting with foetal limb shortening: a disorder of foetal osteogenesis and part of the phenotypic spectrum of Hajdu-Cheney syndrome. [PDF]

Clin Dysmorphol
Ito Y, Ito N, Kuroda Y, Isojima T, Yabusaki M, Okishio E, Kodera M, Morita K, Tomori S, Hagiwara N, Takahashi K, Mimaki M.   +11 more
europepmc   +1 more source

Detection of large genomic deletions of FBN1 and confirmation of breakpoints in Marfan syndrome patients with negative results in next-generation sequencing. [PDF]

BMC Med Genomics
Li J, Zhang Q, Zhu L, Diao Y, Yang L, Liu J.   +5 more
europepmc   +1 more source

From Spine to Syndrome: Incidental Spine MRI Red Flags Leading to PMEPA1-related Loeys-Dietz Syndrome. [PDF]

Intern Med
Nezu M, Eguchi H, Makino A.
europepmc   +1 more source

Biallelic CPAMD8 variants in a patient with ectopia lentis associated with extraocular systemic features reminiscent of Marfan syndrome. [PDF]

Hum Genome Var
Oba D, Sagara M, Oda S, Fukushima M, Hasumi K, Ohashi H.   +5 more
europepmc   +1 more source

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy. [PDF]

Am J Hum Genet
Morsy H, Kim H, Jang G, Zaki MS, Severino M, Abdelrazek IM, Hussien H, Self E, Albaradie RS, Bakur K, Firoozfar Z, Efthymiou S, Noureldeen MM, Nabil A, Alvi JR, Molavi F, Alavi S, Alibakhshi R, Topcu V, Mancilar H, Uctepe E, Yesilyurt A, Aldhalaan H, Showki Tous ES, Alhaddad B, Elbendary HM, Scardamaglia A, Murphy D, Yépez VA, Gagneur J, Omar TI, Abd Elmaksoud M, Vandrovocova J, Abdalla E, Reilly MM, Sultan T, Alkuraya FS, Gleeson JG, Um JW, Houlden H, Ko J, Maroofian R.   +41 more
europepmc   +1 more source

Echotomography of craniosymostosis:review of literature [PDF]

, 2009
Dinatale, Angela, Cacciatore, Alessandra, Rossetti, Diego, Accardi, Manuela Chiara, Lo Magno, Elena, Cavaliere, Alessandra, Ermito, Santina   +6 more
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