gag HIV-1 Gag is degraded by CCDC8 PubMed gag HIV-1 Gag is relocalized by CCDC8 from the plasma membrane to the cytoplasm via endocytosis but not via the endolysosome pathway PubMed gag HIV-1 Gag incorporates CCDC8 into HIV-1 virions PubMed gag HIV- [ncbi.nlm.nih.gov]

ears), microcephaly, mental deficiency, and infantile eczema as well as prenatal and postnatal growth deficiency. [ncbi.nlm.nih.gov]

Dubowitz syndrome : includes characteristic facial appearance (small face with sloping forehead, broad nasal bridge, shallow supraorbital ridge, broad nasal tip, short palpebral fissures, telecanthus, ptosis, dysplastic ears), microcephaly, mental deficiency [doi.org]

Additional features of three M syndrome include short broad neck, prominent trapezii, deformed sternum, short thorax, square shoulders, winged scapulae, hyperlordosis, short fifth fingers, prominent heels, and loose joints. [ncbi.nlm.nih.gov]

Affected individuals may also have additional abnormalities including permanent fixation of certain fingers in a bent position (clinodactyly), unusually short fifth fingers, and/or increased flexibility (hyperextensibility) of the joints. [healthetreatment.com]

Affected individuals may have permanent fixation of certain fingers in a bent position (clinodactyly), abnormally short fifth fingers, and/or increased flexibility (hyperextensibility) of the joints. [rarediseases.org]

Post-termination examination revealed no skeletal dysplasia, but some subtle proximal limb shortening in two foetuses, and a spectrum of mildly dysmorphic features. [ncbi.nlm.nih.gov]

- Kozlowski, K. 3M syndrome in two sisters Prenatal growth restriction, bone dysplasia, 3M syndrom In: Journal of Paediatrics and Child Health,č. 38,2003,s. 419-422, Mařík, Ivo - Kuklík, Miloslav - Maříková, Alena - Štědrý, Robert bone (skeletal) dysplasia [cps.lf1.cuni.cz]

Seckel syndrome panel ATR, RBBP8, CENPJ, CEP152, CEP63, ATRIP Skeletal dysplasia ciliopathy panel DYNC2H1, EVC, EVC2, IFT43, IFT80,... Skeletal dysplasia extended panel ALPL, ARSE, COL10A1, COL11A1, COL11A2,... [centogene.com]

Antenatally, he was suspected to have skeletal dysplasia. [edmcasereports.com]

From the age of 7–8 years triangular-shaped face, frontal bossing, transverse chest groove, winged scapulae and hyperextensible joints became very evident (Figures 1 a and 2 b and Figure 3 ). [ijponline.biomedcentral.com]

disorders TBX3 Ulnar-Mammary syndrome TBX19 Adrenocorticotropic hormone deficiency TCF12 Craniosynostosis TCIRG1 Osteopetrosis, severe neonatal or infantile forms (OPTB1) TCOF1 Treacher Collins syndrome TCTN3 Joubert syndrome, Orofaciodigital syndrome [genda.com.ar]

Fabien Guimiot Department of Genetics, AP-HP, Hôpital Robert Debré, Paris, France Clarisse Baumann Service de génétique, CHU Sainte Justine, Montreal, Canada Daniela Bezerra Da Silva Department of Biochemistry and Medical Genetics and INSERM, U694, Angers [doi.org]

bossing, midface hypoplasia, a short upturned nose with anteverted nares and full lips. read more [ctgt.net]

Mulibrey nanism: includes prenatal and postnatal growth deficiency with relatively large hands, triangular facies with frontal bossing and depressed nasal bridge, small tongue, yellowish dots on the fundus and pericardial constriction. [ncbi.nlm.nih.gov]

bossing, fleshy tipped nose, and fleshy lips. [genecards.org]

Additionally, this syndrome is characterized by dysmorphic facial features (large head, dolichocephaly, frontal bossing, a triangular face, long philtrum and hypoplastic midface) and certain radiological abnormalities. [cags.org.ae]

A recent report demonstrated that children thought to have autosomal recessive RSS did in fact have 3-M syndrome. 5 Dubowitz syndrome: includes characteristic facial appearance (small face with sloping forehead, broad nasal bridge, shallow supraorbital [ncbi.nlm.nih.gov]

Dubowitz syndrome : includes characteristic facial appearance (small face with sloping forehead, broad nasal bridge, shallow supraorbital ridge, broad nasal tip, short palpebral fissures, telecanthus, ptosis, dysplastic ears), microcephaly, mental deficiency [doi.org]

forehead, pseudo-hydrocephalic skull configuration) Fetal alcohol syndrome NA NA IUGR Microcephaly subcutaneous fat Hirsutism Nail hypoplasia Characteristic facial features Intellectual disability 1. [ncbi.nlm.nih.gov]

Title: The Cytoskeletal Adaptor Obscurin-Like 1 Interacts with the Human Papillomavirus 16 (HPV16) Capsid Protein L2 and Is Required for HPV16 Endocytosis. [ncbi.nlm.nih.gov]