A null mutation in a patient can facilitate phenotype assignment and uncovers the function of
that specific gene. We present five sibs of a consanguineous Pakistani family afflicted with a …

The myelin regulatory factor (MYRF; MIM# 608329) gene was first identified as a critical
transcription factor involved in oligodendrocyte differentiation and central nervous system …

Objective To define the mutation type in a clinically suspected Egyptian child with Freeman-
Sheldon syndrome (FSS); it involves certain skeletal malformations with some facial …

Objective: Rare disease Background: Short stature is the second most common reason for
referral to a pediatric endocrinology clinic. Numerous genetic causes have been identified …

Biallelic variants in FAT4 are associated with the two disorders, Van Maldergem syndrome
(VMS)(n= 11) and Hennekam syndrome (HS)(n= 40). Both conditions are characterized by a …

Background Temtamy preaxial brachydactyly syndrome (OMIM: 605282) is a rare autosomal
recessive disorder first described in 1998. In 2010, CHYS1 was identified as the causative …

We report a 4.5 year old female child with the classical triad of Meier–Gorlin syndrome
(microtia, absent patella and short stature) with normal mentality. She had small triangular …

梅–罗综合征 (MRS) 是一种罕见的累及神经, 皮肤, 黏膜的综合征, 以复发性口面部肿胀,
复发性面瘫和裂纹舌三联征为特征, 好发于青壮年. MRS 病因尚不明确, 可能与微生物因素 …

Conclusion: Say Meyer syndrome is rare X linked condition characterized by developmental
delay, short stature and metopic suture synostosis. Characteristic MRI brain findings include …

Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS) are clinically related autosomal
dominant systemic connective tissue disorders. Although mutations in several genes of the …