Results 21 to 30 of about 6,036 (217)

Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature [PDF]

BMC Medical Genomics, 2020
Background Autosomal recessive cutis laxa type IC (ARCL IC, MIM: #613177) results from a mutation in the LTBP4 gene (MIM: #604710) on chromosome 19q13.
Qiang Zhang, Zailong Qin, Shang Yi, Hao Wei, Xun Zhao Zhou, Jiasun Su   +5 more
doaj   +2 more sources

Cutis Laxa [PDF]

, 2020
INSERM
  +5 more sources

Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome. [PDF]

Am J Hum Genet, 2021
Pottie L, Adamo CS, Beyens A, Lütke S, Tapaneeyaphan P, De Clercq A, Salmon PL, De Rycke R, Gezdirici A, Gulec EY, Khan N, Urquhart JE, Newman WG, Metcalfe K, Efthymiou S, Maroofian R, Anwar N, Maqbool S, Rahman F, Altweijri I, Alsaleh M, Abdullah SM, Al-Owain M, Hashem M, Houlden H, Alkuraya FS, Sips P, Sengle G, Callewaert B.   +28 more
europepmc   +4 more sources

A Japanese Case of Lenz‐Majewski Syndrome With a Novel PTDSS1 Variant

Molecular Genetics & Genomic Medicine
Background Lenz‐Majewski syndrome (LMS) is a rare genetic disorder characterized by osteosclerosis, intellectual disability, characteristic facies, and distinct craniofacial, dental, cutaneous, and distal‐limb anomalies.
Yasuko Kobari, Non Miyata, Jun Takayama, Naoya Saijo, Tomohisa Suzuki, Shigeo Kure, Atsuo Kikuchi, Gen Tamiya, Takumi Takizawa   +8 more
doaj   +2 more sources

Cutis laxa congénital: à propos d’un cas [PDF]

The Pan African Medical Journal, 2019
Les « cutis laxa » (CL) sont des affections rares du tissu élastique, caractérisées par une hyperlaxité cutanée. Elles peuvent être congénitales ou acquises.
Aziza El Ouali, Manal Azizi, Siham Dikhaye, Noufissa Benajiba   +3 more
doaj   +2 more sources

Case Report: <i>de novo</i> in-frame deletion in <i>PLCG2</i> gene: a case report of B-cell lymphopenia, pulmonary bullae, and cutis laxa. [PDF]

Front Immunol
Wu X, Zhang J, Shen M.
europepmc   +3 more sources

Acquired Cutis Laxa [PDF]

Turkish Journal of Hematology, 2020
Ankur Jain
doaj   +2 more sources

Cutis Laxa [PDF]

, 2013
Cutis laxa is an inherited or acquired disease characterized by redundant, sagging and inelastic skin. In inherited cutis laxa an abnormal synthesis of extracellular matrix proteins occurs due to genetic defects coding for diverse extracellular matrix components.
Mohamed, M., Mohamed, M., Voet, M, Gardeitchik, T., Gardeitchik, T., Gardeitchik, T., Morava, E.   +6 more
  +5 more sources

Autosomal Recessive Cutis Laxa Type 1C with LTBP4 Mutation: Unmasking an Exceptional Case in the Indian Subcontinent. [PDF]

Indian Dermatol Online J
Senapati D, Mendiratta V, Callewaert B, Agarwal K, Osama MA, Beyens A, Symoens S.   +6 more
europepmc   +2 more sources

Anaesthetic Management in a Child with Cutis Laxa for Bilateral Ureteric Reimplantation

Archives of Anesthesia and Critical Care, 2021
Cutis laxa is a rare congenital multisystem connective tissue disorder. Patients with cutis laxa have facial features, pulmonary emphysema and right-sided heart failure.
Haripriya Ramachandran, Dammaningala Venkataramaiah Bhagya   +1 more
doaj   +1 more source