Results 51 to 60 of about 3,428 (220)
Genetics and Molecular Biology, 1998 We have evaluated a girl and a boy with the blepharophimosis, ptosis and epicanthus inversus syndrome (BPES). The girl presented cleft palate and the boy showed cleft lip and palate as additional clinical signs.
N.M. Kokitsu-Nakata, A. Richieri-Costa
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide +10 more
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli +11 more
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Syndrome de blépharophimosis: une forme particulière du ptosis congénital
The Pan African Medical Journal, 2015 Le syndrome de blépharophimosis est une malformation palpébrale congénitale caractérisée par l'association d'un ptosis majeur bilatéral à d'autres anomalies palpébrales.
Hanan Handor +5 more
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Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1
The FEBS Journal, EarlyView.PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio +12 more
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OftalʹmologiâBlepharophimosis syndrome (palpebral syndrome) is a sporadic or hereditary genetic disease, manifested mainly by changes in the eyelids in the form of blepharophimosis, ptosis of the upper eyelid and reverse epicanthus.
M. G. Kataev +2 more
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American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1156-1161, May 2026.ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston +35 more
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Goldenhar syndrome with blepharophimosis and limb deformities: a case report
BMC Ophthalmology, 2018 Background Goldenhar syndrome has variable presentations and can affect multiple regions of the body. Diagnoses are based on clinical manifestations. The association of Goldenhar syndrome with blepharophimosis and limb deformities has not previously been
Xia Ding +6 more
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Blepharophimosis-ptosis-epicanthus inversus syndrome in a Pakistani pedigree [PDF]
, 2010 Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare developmental ocular disorder. We report this condition affecting 4 members of a Pakistani family across three generations.
Ahmad, Khabir +3 more
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Clinical Features and Prognosis of SEPTIN9‐Related Hereditary Neuralgic Amyotrophy
European Journal of Neurology, Volume 33, Issue 4, April 2026.Neuralgic amyotrophy (NA) may be either idiopathic (INA) or hereditary (HNA). In this multicenter retrospective study, SEPTIN9‐related HNA was associated with a younger age at onset, more frequent recurrences, sensory symptoms, distal upper‐limb nerve involvement, as well as the presence of a family history of NA and dysmorphic features, compared with ...
Julian Theuriet +18 more
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