Current perspectives in hypospadias research: A scoping review of articles published in 2021
H Gozar, Z Bara, E Dicu… - Experimental and …, 2023 - spandidos-publications.com
Hundreds of papers are written about hypospadias every year referring to all aspects of the
pathology, being one of the most common congenital malformations. The present study …
pathology, being one of the most common congenital malformations. The present study …
Mice heterozygous for an osteogenesis imperfecta-linked MBTPS2 variant display a compromised subchondral osteocyte lacunocanalicular network associated with …
T Danyukova, AR Alimy, RV Velho, TA Yorgan… - Bone, 2023 - Elsevier
Missense variants in the MBTPS2 gene, located on the X chromosome, have been
associated with an X-linked recessive form of osteogenesis imperfecta (X-OI), an inherited …
associated with an X-linked recessive form of osteogenesis imperfecta (X-OI), an inherited …
Syndromic ichthyoses
J Fischer, A Hotz, K Komlosi - Medizinische Genetik, 2023 - degruyter.com
Inherited ichthyoses are classified as Mendelian disorders of cornification (MEDOC), which
are further defined on the basis of clinical and genetic features and can be divided into non …
are further defined on the basis of clinical and genetic features and can be divided into non …
[HTML][HTML] Identifying infrequent genetic changes in monozygotic twins afflicted with hypospadias via targeted panel sequencing
JH Kim, KS Kim, JH Han, D Kim, CH Kwak… - … and Clinical Urology, 2024 - icurology.org
Purpose We aimed to identify the genetic causes of hypospadias in children using targeted
gene panel sequencing for disorders of sex development (DSD). Materials and Methods …
gene panel sequencing for disorders of sex development (DSD). Materials and Methods …
Defining the clinical spectrum of ichthyosis follicularis, atrichia and photophobia clinical association type 1 (IFAP1)
G Pascolini, P Fortugno, B Chandramouli… - European Journal of …, 2023 - jle.com
The triad of ichthyosis follicularis, atrichia, and photophobia with or without Bresheck
syndrome (IFAP1; MIM# 308205) defines a rare genodermatosis first recognized at the …
syndrome (IFAP1; MIM# 308205) defines a rare genodermatosis first recognized at the …