... palate, absence of radius and digits, anal atresia, abnormal lobation of the lungs, and diaphragmatic agenesis. The molecular ...

... in 50% of individuals with PIGN pathogenic variants. Abnormal pulmonary lobation was also noted in one individual. Neurologic findings. Structural brain malformations in those with PIGN pathogenic variants have ... corneal endothelium, microphthalmia, irregularities of Bowman's layer, ...

... or respiratory tract, including the trachea or larynx. Abnormal pulmonary lobation and pulmonary hypoplasia are common in more severely ...

... Other findings observed in individuals with 22q11.2DS: Abnormal lung lobation [ McDonald-McGinn et al 1995 ] Dental carries Malignancies ...

... uncommon but well documented. Biliary atresia, Hirschsprung disease, abnormal liver lobation, extrahepatic biliary ducts, absent gallbladder, and polysplenia have ...

... typically mature with an unremarkable morphology, can exhibit abnormal granulation, unusual nuclear lobation, or finely dispersed nuclear chromatin.[ 7 ] Fewer than ...

... right retained testis. Internal congenital anomalies included incomplete lobation of the left lung, lobulated spleen, cervical ribs, ... neuron differentiation during brain development [ Ka & Kim 2018 ]. Abnormal gene product. The mechanism of pathogenicity for ANKRD11 ...