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Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

A case of peripartum cardiomyopathy in dichorionic diamniotic twin pregnancy. [PDF]

Arch Clin Cases
Fatema K, Tan ZY, Ranaweera U.
europepmc   +1 more source

Stillbirth Without Viability: An Intrapartum Diagnosis of Twin Reversed Arterial Perfusion (TRAP) Sequence in Monochorionic Twin Pregnancy. [PDF]

Cureus
Siwatch S, Sodhi R, Khastgir G, Sikka P.
europepmc   +1 more source

Klebsiella variicola Infection in a Second Trimester Twin Pregnancy: An Underreported Cause of Chorioamnionitis. [PDF]

Diagnostics (Basel)
Bonasoni MP, Ferretti A, Blasi I, Comitini G, Aguzzoli L, Bardaro M, Russello G, Carretto E.   +7 more
europepmc   +1 more source

An Unusual and Severe Thyrotoxicosis in a Twin Pregnancy: Fortune Favors the Brave. [PDF]

Case Rep Endocrinol
Maltese V, Gatta E, Silvestrini I, Anelli V, Bambini F, Buoso C, Cavadini M, Ugoccioni M, Saullo M, Marini F, Gandossi E, Delbarba A, Pirola I, Cappelli C.   +13 more
europepmc   +1 more source

A rare case report of umbilical cord prolapse in a second-trimester twin pregnancy: Diagnostic, management, and prognostic challenges. [PDF]

Int J Surg Case Rep
Fathallah I, Al-Talep A, Alajrd AA, Al-Ali M.   +3 more
europepmc   +1 more source

The effectiveness and safety of continuous and repeated treatment of atosiban in twin pregnancy with threatened preterm labor: A propensity score-matched study. [PDF]

PLoS One
Zhu H, Gu W, Wang B, Hu R.
europepmc   +1 more source

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Twin pregnancies

Ultraschall in der Medizin - European Journal of Ultrasound, 2021
AbstractTwin pregnancies, resulting in 2–3 % of all deliveries, are high risk pregnancies which need specialized care. A correct dating of pregnancy and the assessment of the chorionicity/amnionicity in the first trimester (< = 13 + 6 gestational weeks, GW) is essential for further monitoring.
openaire   +4 more sources

Twin pregnancy

Current Opinion in Obstetrics and Gynaecology, 1999
Recent advances regarding twin pregnancies have focused on several problems, including the detection and definition of risk in relation to chorionicity, the management of a pregnancy with a single anomalous fetus, the prediction of prognosis and the management of twin-twin transfusion syndrome, and the detection of preterm labor.
H B, Al-Kouatly, D W, Skupski
openaire   +2 more sources